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Article

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

American journal of medical genetics. Part A - 1 Jun 2017

Moss Joanna, Penhallow Jessica, Ansari Morad, Barton Stephanie, Bourn David, FitzPatrick David R, Goodship Judith, Hammond Peter, Roberts Catherine, Welham Alice, Oliver Chris

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There...

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Source

Identifiers

PMID: 28425213
DOI: 10.1002/ajmg.a.38228

Genes

NIPBL
HDAC8
RAD21
SMC3

Provenance

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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Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.PMID 28425213Read ↗

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