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Article

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Annals of laboratory medicine - 1 Sept 2014

Lim Ji-Hun, Seo Eul-Ju, Kim Yoo-Mi, Cho Hyun-Ju, Lee Jin-Ok, Cheon Chong Kun, Yoo Han-Wook

Abstract excerpt

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature,...

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Identifiers

PMID: 25187894
DOI: 10.3343/alm.2014.34.5.390
PMCID: PMC4151010

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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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