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Article

Cornelia de Lange syndrome.

Clinical genetics - 1 Jul 2015

Boyle M I, Jespersgaard C, Brøndum-Nielsen K, Bisgaard A-M, Tümer Z

Abstract excerpt

Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric...

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Source

Identifiers

PMID: 25209348
DOI: 10.1111/cge.12499

Genes

HDAC8
NIPBL
RAD21
SMC3

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.

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