Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes

Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abno...

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Detalles Bibliográficos
Autores principales: Wojciechowska, Katarzyna, Nurzyńska-Flak, Joanna, Styka, Borys, Kacprzak, Magdalena, Lejman, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485045/
https://www.ncbi.nlm.nih.gov/pubmed/34604130
http://dx.doi.org/10.3389/fped.2021.649043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485045/
https://www.ncbi.nlm.nih.gov/pubmed/34604130
http://dx.doi.org/10.3389/fped.2021.649043

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