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Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients

Abstract Background Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) and can be inherited in either an autosomal dominant or autosomal re...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Qiwei Wang, Xiaoshan Lin, Kunbei Lai, Yinghui Liu, Tingfeng Qin, Haowen Tan, Jing Li, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin, Weirong Chen
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2023-10-01
Schriftenreihe:BMC Medical Genomics
Schlagworte:
SEC23A
Congenital cataract
Cranio-lenticulo-sutural dysplasia
Gene curation
Genetic variants
Online-Zugang:https://doi.org/10.1186/s12920-023-01667-9
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