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Article

De novo microdeletion of BCL11A is associated with severe speech sound disorder.

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

Peter Beate, Matsushita Mark, Oda Kaori, Raskind Wendy

Abstract excerpt

In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here...

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Source

Identifiers

PMID: 24810580
DOI: 10.1002/ajmg.a.36599

Genes

PAPOLG
REL

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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