Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

doi:10.1016/j.ejmg.2014.05.006

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Article

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

European journal of medical genetics - 1 Sept 2014

Baquero-Montoya Carolina, Gil-Rodríguez María-Concepción, Hernández-Marcos María, Teresa-Rodrigo María-Esperanza, Vicente-Gabas Alicia, Bernal María-Luisa, Casale Cesar-Horacio, Bueno-Lozano Gloria, Bueno-Martínez Inés, Queralt Ethel, Villa Olaya, Hernando-Davalillo Cristina, Armengol Lluís, Gómez-Puertas Paulino, Puisac Beatriz, Selicorni Angelo, Ramos Feliciano J, Pié Juan

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to...

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Identifiers

PMID: 24874887
DOI: 10.1016/j.ejmg.2014.05.006

Genes

NIPBL
BHLHA9
HDAC8
RAD21
SMC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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