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Article

Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.

American journal of medical genetics. Part A - 1 Mar 2021

Zhang Tingting, Yang Yun, Yin Xueling, Wang Xueqing, Ni Jihong, Dong Zhiya, Li Chuanyin, Lu Wenli

Abstract excerpt

KBG syndrome is a rare genetic disease characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Heterozygous mutations in ANKRD11 gene, or deletion of 16q24.3 that includes ANKRD11 gene are the cause of KBG syndrome. We describe two patients presenting with short stature and partial facial features, whereas no intellectual disability or hearing loss was observed in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33354850
DOI: 10.1002/ajmg.a.62024
PMCID: PMC7898801

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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