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

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

in Genetics of Common and Rare Diseases

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

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

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