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Article

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

American journal of medical genetics. Part A - 1 Feb 2012

Oudesluijs Grétel, Simon Marleen E H, Burggraaf Rianne H J, Waterham Hans R, Hennekam Raoul C M

Abstract excerpt

We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead,...

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Source

Identifiers

PMID: 22140078
DOI: 10.1002/ajmg.a.34396

Genes

NSDHL
SETBP1

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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