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Article

A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.

European journal of medical genetics - 1 May 2013

Xu Mingzhi, Zhou Huali, Yong Jing, Cong Peikuan, Li Chengjiang, Yu Yunsong, Qi Ming

Abstract excerpt

KBG syndrome is characterized by postnatal short stature, macrodontia, facial and hand anomalies, delayed bone age and intellectual disability. KBG syndrome is an infrequently reported autosomal dominant condition caused by a mutation or haploinsufficiency of ANKRD11 at 16q24.3. We report on a patient, who showed many manifestations of KBG syndrome and was found to harbor a de novo ANKRD11 mutation, c.362T > A...

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PMID: 23369839
DOI: 10.1016/j.ejmg.2013.01.007

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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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