Open AccessLoss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Author(s) -
Johanna Hietamäki,
Louise Gregory,
Sandy Ayoub,
Anna-Pauliina Iivonen,
Kirsi Vaaralahti,
Xiaonan Liu,
Nina Brandstack,
Andrew Buckton,
Tiina Laine,
Johanna Känsäkoski,
Matti Hero,
Päivi J. Miettinen,
Markku Varjosalo,
Emma Wakeling,
Mehul Dattani,
Taneli Raivio
Publication year - 2020
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/clinem/dgaa078
Subject(s) - hypopituitarism , loss function , medicine , function (biology) , genetics , biology , phenotype , gene
Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown.
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