Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases of CdLS with distinct phenotypes that...

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Bibliographic Details
Main Authors: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Medical Genomics
Subjects:
Cornelia de Lange Syndrome (CdLS)
Whole exome sequencing
Novel variant
NIPBL gene
SMC1A gene
Mosaicism
Online Access:https://doi.org/10.1186/s12920-024-01798-7

Internet

https://doi.org/10.1186/s12920-024-01798-7

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