Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

BACKGROUND: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly...

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Detalles Bibliográficos
Autores principales: Kaymakcalan, Hande, Kaya, İlyas, Cevher Binici, Nagihan, Nikerel, Emrah, Özbaran, Burcu, Görkem Aksoy, Mehmet, Erbilgin, Seda, Özyurt, Gonca, Jahan, Noor, Çelik, Didem, Yararbaş, Kanay, Yalçınkaya, Leyla, Köse, Sezen, Durak, Sibel, Ercan‐Sencicek, Adife Gulhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404225/
https://www.ncbi.nlm.nih.gov/pubmed/34268892
http://dx.doi.org/10.1002/mgg3.1739

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404225/
https://www.ncbi.nlm.nih.gov/pubmed/34268892
http://dx.doi.org/10.1002/mgg3.1739

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