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NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family

Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency. Scattered familial cases have been found, revealing some genetic variants. However, most of the previous research studies involved an affected sibling, an...

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Detalles Bibliográficos
Autores principales: Wang, Cheng-Zhi, Guo, Ling-Ling, Guo, Qing-Hua, Mu, Yi-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383300/
https://www.ncbi.nlm.nih.gov/pubmed/32733554
http://dx.doi.org/10.1155/2020/5401738