KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

Abstract Background KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria were proposed in 2007 ba...

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Bibliographic Details
Main Authors: Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
16q24.3
ANKRD11 gene
distinctive craniofacial features
KBG syndrome
Online Access:https://doi.org/10.1002/mgg3.2127

Internet

https://doi.org/10.1002/mgg3.2127

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