Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations

IMPORTANCE: PTEN is among the most common autism spectrum disorder (ASD)–predisposition genes. Germline PTEN mutation carriers can develop malignant neoplasms and/or neurodevelopmental disorders such as ASD and developmental delay. Why a single gene contributes to disparate clinical outcomes, even i...

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Publicado en:JAMA Netw Open
Autores principales: Yehia, Lamis, Seyfi, Marilyn, Niestroj, Lisa-Marie, Padmanabhan, Roshan, Ni, Ying, Frazier, Thomas W., Lal, Dennis, Eng, Charis
Formato: Artigo
Lenguaje:Inglês
Publicado: American Medical Association 2020
Materias:
Original Investigation
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042875/
https://ncbi.nlm.nih.gov/pubmed/32003824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2019.20415
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