Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report

BACKGROUND: This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition. CASE SUMMARY: We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of...

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Detalles Bibliográficos
Autores principales: Lin, Shuang-Zhu, Feng, Jin-Hua, Sun, Li-Ping, Ma, Hong-Wei, Wang, Wan-Qi, Li, Jia-Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891788/
https://www.ncbi.nlm.nih.gov/pubmed/35317131
http://dx.doi.org/10.12998/wjcc.v10.i6.1889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891788/
https://www.ncbi.nlm.nih.gov/pubmed/35317131
http://dx.doi.org/10.12998/wjcc.v10.i6.1889

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