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

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 recessive...

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Detalles Bibliográficos
Autores principales: Wang, Qiwei, Lin, Xiaoshan, Lai, Kunbei, Liu, Yinghui, Qin, Tingfeng, Tan, Haowen, Li, Jing, Lin, Zhuoling, Zhang, Xulin, Li, Xiaoyan, Lin, Haotian, Chen, Weirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568747/
https://www.ncbi.nlm.nih.gov/pubmed/37828500
http://dx.doi.org/10.1186/s12920-023-01667-9

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