Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

Abstract Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live births in different population groups without any known racial predilections...

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Bibliographic Details
Main Authors: Jay J. Desai, Sreelata B. Nair, S. Pappachan
Format: Article
Language:English
Published: SpringerOpen 2021-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Cornelia de Lange syndrome
Developmental delay
Dysmorphism
NIPBL
Missense mutation
Online Access:https://doi.org/10.1186/s43042-021-00142-3

Internet

https://doi.org/10.1186/s43042-021-00142-3

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