Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 24 Dec 2024

Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome

in Genetics of Common and Rare Diseases

ZhiH Shi
TingT Sun
Juan Yin
Shuo Qiu
YueM Wang
JunH Leng

Frontiers in Pediatrics

doi 10.3389/fped.2024.1466999

1,500 views

Case Report

Published on 24 Dec 2024

Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report

in Genetics of Common and Rare Diseases

Fang Shen
Junyan Li
Dandan Li
Hui Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1500152

8,309 views

Original Research

Published on 19 Dec 2024

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Linyan Zhu
Rui Zhou
Lianxiao Zhang
Mei Chen
Shengmin Zhang
Xiaxi Huang
Yubo Shi
Huiqing Ding

Frontiers in Pediatrics

doi 10.3389/fped.2024.1505924

1,699 views

Case Report

Published on 10 Dec 2024

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

in Genetics of Common and Rare Diseases

Thi Thanh Ngan Nguyen
Nguyen Ngoc Khanh
Chi Dung Vu
Ngoc-Lan Nguyen
Van Khanh Tran
Nguyen Thi Kim Lien
Nguyen Van Tung
Nguyen Duc Quan
Nguyen Thanh Hien
Tran Thi Huong Giang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1494604

2,452 views

Case Report

Published on 02 Dec 2024

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

in Genetics of Common and Rare Diseases

Yijun Pan
Bin Ren
Lijuan Chen
Qiang Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1419976

1,692 views

Case Report

Published on 22 Nov 2024

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

in Genetics of Common and Rare Diseases

Sergey Nikitin
Evgeniya Melnik
Inna Sharkova
Aysylu Murtazina
Olga Shchagina
Victoriia Zabnenkova
Vadim Tsargush
Elena Dadali
Sergey Kutsev

Frontiers in Pediatrics

doi 10.3389/fped.2024.1414465

1,528 views
2 citations

Case Report

Published on 21 Nov 2024

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Agnieszka Pawelak
Artur Polczyk
Ewelina Wolańska
Magdalena Kłaniewska
Mateusz Biela
Aleksander Basiak
Maria Franaszczyk
Małgorzata Rydzanicz
Rafał Płoski
Robert Śmigiel

Frontiers in Pediatrics

doi 10.3389/fped.2024.1435053

2,179 views
2 citations

Case Report

Published on 31 Oct 2024

Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene

in Genetics of Common and Rare Diseases

Evgenia Melnik
Margarita Sharova
Vladimir Kenis
Anna Morgul
Viktoria Zabnenkova
Tatiana Markova

Frontiers in Pediatrics

doi 10.3389/fped.2024.1442624

1,837 views
2 citations

Case Report

Published on 16 Oct 2024

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

in Genetics of Common and Rare Diseases

Qiang Zhang
Xiaoxiao Chen
Yanyan Cao
Yun Zhou
Yingye Liu
Lijun Liu
Lei Liu
Xiaowei Cui

Frontiers in Pediatrics

doi 10.3389/fped.2024.1460174

2,623 views

Original Research

Published on 08 Oct 2024

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

in Genetics of Common and Rare Diseases

Guihua Lai
Qiying Gu
Zhiyong Lai
Haijun Chen
Junkun Chen
Jungao Huang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1448895

3,283 views

Case Report

Published on 02 Oct 2024

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report

in Genetics of Common and Rare Diseases

Dan Feng
Ye Li
Ya-Ting Zhang
Yan-Jun Song
Dong-Yuan Qin
Fan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1453778

2,943 views
1 citation

Original Research

Published on 27 Sep 2024

The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review

in Genetics of Common and Rare Diseases

Pianpian Pan
Na Zhou
Yi Sun
Zhengrong Chen
Jin Han
Wei Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1410133

2,674 views
2 citations

Case Report

Published on 25 Sep 2024

Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis

in Genetics of Common and Rare Diseases

Johannes Weidner
Kai Fiedler
Mechthild Schulze-Becking
Christiaan Peter Sentner
Christoph Korenke
Axel Heep

Frontiers in Pediatrics

doi 10.3389/fped.2024.1367532

1,786 views

Case Report

Published on 25 Sep 2024

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

in Genetics of Common and Rare Diseases

Diana Jecan-Toader
Adrian Trifa
Bogdan Lucian
Tudor Lucian Pop
Simona Sorana Cainap

Frontiers in Pediatrics

doi 10.3389/fped.2024.1463903

3,260 views
1 citation

Original Research

Published on 18 Sep 2024

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients

in Genetics of Common and Rare Diseases

Qi Yang
Xunzhao Zhou
Sheng Yi
XiaoLing Li
Qiang Zhang
Shujie Zhang
Li Lin
Shang Yi
Biyan Chen
Zailong Qin

Frontiers in Pediatrics

doi 10.3389/fped.2024.1429586

3,604 views
1 citation

Original Research

Published on 16 Sep 2024

Transcriptome meta-analysis of Kawasaki disease in humans and mice

in Genetics of Common and Rare Diseases

Wanjun Gu
Sarah Mirsaidi-Madjdabadi
Francisco Ramirez
Tatum S. Simonson
Ayako Makino

Frontiers in Pediatrics

doi 10.3389/fped.2024.1423958

3,996 views
2 citations

Case Report

Published on 12 Sep 2024

Case Report: Cerebral folate deficiency caused by FOLR1 variant

in Genetics of Common and Rare Diseases

Qian Wang
Jie Yang
Chunmei Yu
Yao Deng
Qianhui Wen
Hua Yang
Hao Liu
Rong Luo

Frontiers in Pediatrics

doi 10.3389/fped.2024.1434209

4,342 views
2 citations

Brief Research Report

Published on 12 Sep 2024

In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function

in Genetics of Common and Rare Diseases

Qingyang Hu
Haiming Chen
Tianyi Liu
Xue Dong
Xuejiao Hu
Wenxin Yan
Zhong Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1450859

1,977 views
1 citation

Original Research

Published on 10 Sep 2024

Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion

in Genetics of Common and Rare Diseases

Yazhou Wang
Xuepeng Chen
Dufei Zhang
Renwei Chen
Ailixiati Alifu

Frontiers in Pediatrics

doi 10.3389/fped.2024.1400123

1,788 views
3 citations

Original Research

Published on 06 Sep 2024

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients

in Genetics of Common and Rare Diseases

Qiang Zhang
Qi Yang
Fei Shen
Linlin Wang
Jingsi Luo

Frontiers in Pediatrics

doi 10.3389/fped.2024.1425030

2,138 views
2 citations

Original Research

Published on 29 Aug 2024

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia

in Genetics of Common and Rare Diseases

Jianling Cai
Tianming Liu
Yuxuan Huang
Hongxing Chen
Meidie Yu
Dongqing Zhang
Zhanqin Huang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1411676

2,067 views
1 citation

Original Research

Published on 27 Aug 2024

The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study

in Genetics of Common and Rare Diseases

Zhe Wang
Bingjun Gao
Xiao Liu
Aiwu Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1371933

2,531 views
1 citation

Case Report

Published on 15 Jul 2024

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

in Genetics of Common and Rare Diseases

Fengyan Tian
Xiao Dong
Ruyue Yuan
Xiaohan Hou
Jing Qing
Yani Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1428513

2,800 views

Original Research

Published on 15 Jul 2024

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

in Genetics of Common and Rare Diseases

Hind Alsharhan
Mohammad Z. Haider
Bann Qadoura
Mariam Ayed
Gursev S. Dhaunsi
Hessa Alkandari

Frontiers in Pediatrics

doi 10.3389/fped.2024.1376053

2,223 views
2 citations

459 articles

articles

Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome

Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report

The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review

Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients

Transcriptome meta-analysis of Kawasaki disease in humans and mice

Case Report: Cerebral folate deficiency caused by FOLR1 variant

In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function

Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia

The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening