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Article

Characterization of limb differences in children with Cornelia de Lange Syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2016

Mehta Devanshi, Vergano Samantha A Schrier, Deardorff Matthew, Aggarwal Sarika, Barot Akash, Johnson Drew M, Miller Nathan F, Noon Sarah E, Kaur Maninder, Jackson Laird, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a well-described multisystem developmental disorder characterized by dysmorphic facial features, growth and behavioral deficits, and cardiac, gastrointestinal, and limb anomalies. The limb defects seen in CdLS can be mild, with small feet or hands only, or can be severe, with variable deficiency defects involving primarily the ulnar structures and ranging from mild hypoplasia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 27120260
DOI: 10.1002/ajmg.c.31498

Genes

NIPBL

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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Characterization of limb differences in children with Cornelia de Lange Syndrome.PMID 27120260Read ↗

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