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Article

Cornelia de Lange syndrome: a case study.

Genetic testing and molecular biomarkers - 1 Feb 2009

Kalal Goud Iravathy, Raina Vimarsh P, Nayak Veerabhadra S, Teotia Pooja, Gupta Bhushan V

Abstract excerpt

Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new...

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Source

Identifiers

PMID: 19309268
DOI: 10.1089/gtmb.2008.0057

Genes

NIPBL

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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Cornelia de Lange syndrome: a case study.PMID 19309268Read ↗

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