A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient

in Genetics of Common and Rare Diseases

• Qiang Zhang
• Qi Yang
• Xunzhao Zhou
• Sujie Zhang
• Jingsi Luo

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1

in Genetics of Common and Rare Diseases

• V. Napoli
• S. Guerrera
• F. Demaria
• G. Piccolo
• A. Cianfa
• S. Passarini
• M. G. Logrieco
• G. Zanni
• G. Valeri
• S. Vicari

Retraction: ORMDL3 promotes angiogenesis in chronic asthma through the ERK1/2/VEGF/MMP-9 pathway

in Genetics of Common and Rare Diseases

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

in Genetics of Common and Rare Diseases

• Jie Gao
• Ruiqin Wang
• Zhen Pan
• Ruolan Hu
• Mingyan Jiang
• Jinrong Li

Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease

in Genetics of Common and Rare Diseases

• Vincenza Gragnaniello
• Silvia Carraro
• Tiziana Zangardi
• Chiara Cazzorla
• Daniela Gueraldi
• Alberto B. Burlina

Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family

in Genetics of Common and Rare Diseases

• Feng Ding
• Junlin Pan
• Shuhua Ji
• Yan Zhang
• Jinwei Hou
• Na Shi
• Haiping Liu

In-depth analysis of cystic fibrosis cases caused by CFTR gene variation and research on the prediction and simulation of the impact on protein function

in Genetics of Common and Rare Diseases

• Yuxia Shan
• Ziwei Zhu
• Xiaomei Liu
• Lei Chi
• Jianqin Zhang
• Li Cheng
• Tianyi Liu

Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report

in Genetics of Common and Rare Diseases

• Linlin Bao
• Qian Li
• Zhicao Yue
• Fang Yang

Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

in Genetics of Common and Rare Diseases

• Min Zhang
• Zhaodong Lin
• Meihuan Chen
• Danhua Guo
• Qiaomei Yang
• Qianqian He
• Bin Mao
• Bin Liang
• Lingji Chen
• Meiying Cai

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype

in Genetics of Common and Rare Diseases

• Ria Garg
• Wenying Zhang
• Julianne E. Hartmann
• Anne Slavotinek

Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

in Genetics of Common and Rare Diseases

• Sarah Householder
• Ruchit Nagar
• Nisarg Shah
• Jodi Forward
• Sean Bickerton
• Pramod Mistry
• E. Vincent S. Faustino

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

in Genetics of Common and Rare Diseases

• Marina Marsan
• Mattia Brutti
• F. Meloni
• M. Marica
• C. Soddu
• F. Lai
• D. Martorana
• S. Savasta

Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome

in Genetics of Common and Rare Diseases

• Yanping Huang
• Jin Wang
• Lingkong Zeng
• Shi Wang
• Xuechen Zhang

Eliglustat substrate reduction therapy in children with Gaucher disease type 1

in Genetics of Common and Rare Diseases

• Noor Ul Ain
• Armaan Saith
• Audrey Ruan
• Ruhua Yang
• Aaron Burton
• Pramod K. Mistry

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review

in Genetics of Common and Rare Diseases

• Tao Yu
• Miao Yu
• Xueyan Liu
• Hua Wang

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

in Genetics of Common and Rare Diseases

• Yuying Zhu
• Ke Wu
• Hanying Wen

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

in Genetics of Common and Rare Diseases

• Yoong-A Suh
• Jisun Hwang
• Go Hun Seo
• Rin Khang
• Jang Hoon Lee
• Moon Sung Park
• Young Bae Sohn

SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review

in Genetics of Common and Rare Diseases

• Yuqian Wang
• Li Zhang
• Jing Zhu
• Liu Yang
• Chan Wang
• Ning Zou

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China

in Genetics of Common and Rare Diseases

• Chongjun Wu
• Zhongjin Xu
• Qian Wan
• Feng Chen
• Yao Ye
• Hong Wang

Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient

in Genetics of Common and Rare Diseases

• Yun Li
• Junbin Hong
• Shangge Xu
• Tong Zhou
• Xiaolan Xiao
• Jinghua Yang
• Yiting Chen

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly

in Genetics of Common and Rare Diseases

• Jianlong Zhuang
• Junyu Wang
• Zhengping Huang
• Yu’e Chen
• Chunnuan Chen

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency

in Genetics of Common and Rare Diseases

• Juan Li
• Jintao Duan
• Shuli He
• Ying Li
• Meifen Wang
• Chengjun Deng

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

in Genetics of Common and Rare Diseases

• Fengyang Wang
• Huijuan Peng
• Guiyu Lou
• Yanxin Ren
• Shixiu Liao

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency

in Genetics of Common and Rare Diseases

• Federica Deodato
• Sara Boenzi
• Benedetta Greco
• Alessia Graziosi
• Carlo Dionisi-Vici