A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome—a case report

Arboleda-Tham syndrome (OMIM#616268) is a newly named neurodevelopmental disorder, which is an autosomal dominant hereditary disease characterized by genetic variants. The clinical manifestations include global developmental delay, primary microcephaly, and craniofacial dysmorphism, as well as more...

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Detalles Bibliográficos
Autores principales: Jiang, Mingyan, Yang, Lianlian, Wu, Jinhui, Xiong, Fei, Li, Jinrong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261581/
https://www.ncbi.nlm.nih.gov/pubmed/34295791
http://dx.doi.org/10.21037/tp-21-206

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261581/
https://www.ncbi.nlm.nih.gov/pubmed/34295791
http://dx.doi.org/10.21037/tp-21-206

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