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Article

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

BMC medical genomics - 12 Jan 2024

Tehrani Fateh Sahand, Mohammad Zadeh Nadia, Salehpour Shadab, Hashemi-Gorji Farzad, Omidi Ashkan, Sadeghi Hossein, Mirfakhraie Reza, Moghimi Parinaz, Keyvanfar Sepideh, Mohammadi Sarvaleh Sepideh, Miryounesi Mohammad, Ghasemi Mohammad-Reza

Abstract excerpt

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 underwent WES to aid in their diagnosis. METHODS: We conducted a comprehensive review of the literature on CdLS along with...

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Identifiers

PMID: 38216990
DOI: 10.1186/s12920-024-01798-7
PMCID: PMC10787426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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