A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypop...
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
About this item
Full title
Author / Creator
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 Jj , Rajabali, Sakina H , Riegman, Kimberley Lh , De Martini, Lisa B , Chaya, Taro , Robinson, Iain Caf , Furukawa, Takahisa , Cariboni, Anna , Basson, M Albert , Dattani, Mehul T and GOSgene
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 associated with PRDM13 mutation. Patients exhibited i...
Alternative Titles
Full title
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
Authors, Artists and Contributors
Author / Creator
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 Jj
Rajabali, Sakina H
Riegman, Kimberley Lh
De Martini, Lisa B
Chaya, Taro
Robinson, Iain Caf
Furukawa, Takahisa
Cariboni, Anna
Basson, M Albert
Dattani, Mehul T
GOSgene
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8670848
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8670848
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI141587
