Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

BACKGROUND: Germline mutations in PTEN are associated with the PTEN hamartoma tumor syndrome (PHTS), an umbrella term used to describe a spectrum of autosomal‐dominant disorders characterized by variable phenotypic manifestations associated with cell or tissue overgrowth. We report a boy who develop...

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Detalles Bibliográficos
Autores principales: Liu, Jidong, Ding, Guolian, Zou, Kexin, Jiang, Ziru, Zhang, Junyu, Lu, Yunhua, Pignata, Antonella, Venner, Eric, Liu, Pengfei, Liu, Zhandong, Wangler, Michael F., Sun, Zheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057095/
https://www.ncbi.nlm.nih.gov/pubmed/31971667
http://dx.doi.org/10.1002/mgg3.1130

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