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

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 based on 5...

Descripción completa

Detalles Bibliográficos
Autores principales: Choi, Yunha, Choi, Jungmin, Do, Hyosang, Hwang, Soojin, Seo, Go Hun, Choi, In Hee, Keum, Changwon, Choi, Jin‐Ho, Kang, Minji, Kim, Gu‐Hwan, Yoo, Han‐Wook, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094073/
https://www.ncbi.nlm.nih.gov/pubmed/36564961
http://dx.doi.org/10.1002/mgg3.2127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094073/
https://www.ncbi.nlm.nih.gov/pubmed/36564961
http://dx.doi.org/10.1002/mgg3.2127

Ejemplares similares