Frontiers in Pediatrics | Genetics of Common and Rare Diseases

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

581 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

810 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

586 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

566 views

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

858 views

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

806 views

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

975 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

1,093 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

1,084 views

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

1,051 views

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

772 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

1,242 views

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

1,325 views

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

1,707 views

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

1,259 views

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

844 views

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Articles

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