@article{6ed6c347a4f8416188fdf46f99e61ad0,
title = "Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism",
keywords = "TBC1D32, hypopituitarism, Sonic Hedgehog signaling, ciliopathy, retinal dystrophy, PITUITARY-GLAND DEVELOPMENT, CYCLE-RELATED KINASE, NEGATIVE REGULATION, HORMONE DEFICIENCY, COMPLEX, GENES, CILIA, FKBP8, 3121 General medicine, internal medicine and other clinical medicine",
author = "Johanna Hietam{\"a}ki and Gregory, {Louise C.} and Sandy Ayoub and Anna-Pauliina Iivonen and Kirsi Vaaralahti and Xiaonan Liu and Nina Brandstack and Buckton, {Andrew J.} and Tiina Laine and Johanna K{\"a}ns{\"a}koski and Matti Hero and Miettinen, {P{\"a}ivi J.} and Markku Varjosalo and Emma Wakeling and Dattani, {Mehul T.} and Taneli Raivio",
year = "2020",
month = jun,
day = "1",
doi = "10.1210/clinem/dgaa078",
language = "English",
volume = "105",
pages = "1748--1758",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Endocrine Society",
number = "6",
}