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Article

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Singapore medical journal - 1 Aug 2006

Bhuiyan Z A, Zilfalil B A, Hennekam R C M

Abstract excerpt

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Co...

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Source

Identifiers

PMID: 16865217

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16865217-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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