[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].

Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family

It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.

[Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene].

The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.

[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study

The 6-year longitudinal follow-up of ILS in a Chinese patient with severe developmental delay confirmed that haploinsufficiency of the PAFAH1B1 gene was the primary pathogenic cause and expanded the phenotypic spectrum of ILS in Chinese populations.

Analysis of Genetic Factors in a Family With Short Stature

ABSTRACT Background To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals. Methods A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study. Peripheral blood samples were collected from family members for whole exome seq...

A Case Report of a Pedigree with Distal Hereditary Motor Neuropathy Caused by a Homozygous c.1124G>A Variant an the /*9Vaccinia-Related Kinase 1 Gene.

This study aimed to analyze the clinical phenotypes, neurophysiological characteristics, and pathogenicity of gene variants in a pedigree with distal hereditary motor neuropathy (dHMN) caused by VRK1 variants, and to provide evidence to support clinical diagnosis and genetic counseling for this disease. We report a Chi...