Clinical Genetics

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Netrin-1 (NTN1) 中的一种新的从头错义变异与脉络膜视网膜缺损、感觉神经性听力损失和多指畸形相关

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Compound heterozygous variants in WLS gene causes Zaki syndrome

WLS 基因复合杂合变异导致扎基综合征

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family

一种新型 PLS1 c.981+1G>A 变异导致一个家族出现常染色体显性遗传性听力损失

Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

CCIN 的新型纯合变异体因精子头部异常且具有核沉降表型而导致男性不育

Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans

鉴定出导致人类无头精子综合征的非功能性 SPATA20

A novel variant in AFF3 underlying isolated syndactyly

AFF3 基因的新变异导致孤立性并指畸形

Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure

在因不明原因受精失败而导致的原发性不孕女性中发现了新的 WEE2 纯合突变 c.1346C>T 和 c.949A>T

Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility

鉴定导致女性原发性不孕症中卵母细胞成熟异常和早期胚胎停滞的非功能性 PABPC1L