Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review

BACKGROUND: KBG syndrome (OMIM #148050) is a rare, autosomal dominant inherited genetic disorder caused by heterozygous mutations in the ankyrin repeat domain-containing protein 11 (ANKRD11) gene or by microdeletion of chromosome 16q24.3. It is characterized by macrodontia of the upper central incis...

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Detalles Bibliográficos
Autores principales: Kim, Su Jin, Yang, Aram, Park, Ji Sun, Kwon, Dae Gyu, Lee, Jeong-Seop, Kwon, Young Se, Lee, Ji Eun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687677/
https://www.ncbi.nlm.nih.gov/pubmed/33262785
http://dx.doi.org/10.3389/fgene.2020.579805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687677/
https://www.ncbi.nlm.nih.gov/pubmed/33262785
http://dx.doi.org/10.3389/fgene.2020.579805

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