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Article

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.

American journal of medical genetics. Part A - 1 Mar 2017

Tim-Aroon Thipwimol, Jinawath Natini, Thammachote Weerin, Sinpitak Praweena, Limrungsikul Anchalee, Khongkhatithum Chaiyos, Wattanasirichaigoon Duangrurdee

Abstract excerpt

GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28211977
DOI: 10.1002/ajmg.a.38082

Genes

TPM3
HAX1

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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