A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome ass...

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Detalles Bibliográficos
Autores principales: Whittaker, Danielle E., Oleari, Roberto, Gregory, Louise C., Le Quesne-Stabej, Polona, Williams, Hywel J., Torpiano, John G., Formosa, Nancy, Cachia, Mario J., Field, Daniel, Lettieri, Antonella, Ocaka, Louise A., Paganoni, Alyssa J.J., Rajabali, Sakina H., Riegman, Kimberley L.H., De Martini, Lisa B., Chaya, Taro, Robinson, Iain C.A.F., Furukawa, Takahisa, Cariboni, Anna, Basson, M. Albert, Dattani, Mehul T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670848/
https://www.ncbi.nlm.nih.gov/pubmed/34730112
http://dx.doi.org/10.1172/JCI141587

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670848/
https://www.ncbi.nlm.nih.gov/pubmed/34730112
http://dx.doi.org/10.1172/JCI141587

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