A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review

PURPOSE: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder, and cases caused by variants in SMC3 are infrequent. This article describes a case of CdLS related to a pathogenic variant in SMC3 and performs a literature review. METHODS: We collected clinical data and biologi...

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Detalles Bibliográficos
Autores principales: Li, Ran, Tian, Bowen, Liang, Hanting, Chen, Meiping, Yang, Hongbo, Wang, Linjie, Pan, Hui, Zhu, Huijuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515141/
https://www.ncbi.nlm.nih.gov/pubmed/34659104
http://dx.doi.org/10.3389/fendo.2021.604500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515141/
https://www.ncbi.nlm.nih.gov/pubmed/34659104
http://dx.doi.org/10.3389/fendo.2021.604500

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