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Article

Further defining the critical genes for the 4q21 microdeletion disorder.

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

Hu Xuyun, Chen Xiaoli, Wu Bingbing, Soler Irene Mademont, Chen Shaoke, Shen Yiping

Abstract excerpt

4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism. The critical genes had been proposed based on an overlapping 1.37 Mb genomic region. No further refinement has been done since year 2010. Here, we present three cases with 4q21 deletion...

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Source

Identifiers

PMID: 27604828
DOI: 10.1002/ajmg.a.37965

Genes

HNRNPD
HNRNPDL
PRKG2

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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