Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay

Diagnosis of a 9-month-old boy brought to our genetics clinic with chief complaints of developmental delay (DD), failure to thrive, microcephaly, trunk hypotonia and hypertonia of the extremities. Multiple congenital defects but no significant syndromes or diseases were impressed. The chromosomal an...

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Detalles Bibliográficos
Autores principales: Lin, Yung-Feng, Lin, Tzu-Ching, Kirby, Ralph, Weng, Hui-Ying, Liu, Yen-Ming, Niu, Dau-Ming, Tsai, Shih-Feng, Yang, Chia-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723794/
https://www.ncbi.nlm.nih.gov/pubmed/33318932
http://dx.doi.org/10.1016/j.ymgmr.2020.100686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723794/
https://www.ncbi.nlm.nih.gov/pubmed/33318932
http://dx.doi.org/10.1016/j.ymgmr.2020.100686

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