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Article

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

American journal of medical genetics. Part A - 1 Jan 2014

Chowdhury Shimul, Bandholz Anne M, Parkash Sandhya, Dyack Sarah, Rideout Andrea L, Leppig Kathleen A, Thiese Heidi, Wheeler Patricia G, Tsang Marilyn, Ballif Blake C, Shaffer Lisa G, Torchia Beth S, Ellison Jay W, Rosenfeld Jill A

Abstract excerpt

A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 32...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24243649
DOI: 10.1002/ajmg.a.36201

Genes

WTIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24243649-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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