Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Johanna Hietamäki; Louise C. Gregory; Sandy Ayoub; Anna-Pauliina Iivonen; Kirsi Vaaralahti; Xiaonan Liu; Nina Brandstack; Andrew J. Buckton; Tiina Laine; Johanna Känsäkoski; Matti Hero; Päivi J. Miettinen; Markku Varjosalo; Emma Wakeling; Mehul T. Dattani; Taneli Raivio

doi:10.1210/clinem/dgaa078

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Johanna Hietamäki, Louise C. Gregory, Sandy Ayoub, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Xiaonan Liu, Nina Brandstack, Andrew J. Buckton, Tiina Laine, Johanna Känsäkoski, Matti Hero, Päivi J. Miettinen, Markku Varjosalo, Emma Wakeling, Mehul T. Dattani, Taneli Raivio

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Clinical Endocrinology and Metabolism
Volym	105
Nummer	6
Sidor (från-till)	1748-1758
Antal sidor	11
ISSN	0021-972X
DOI	https://doi.org/10.1210/clinem/dgaa078
Status	Publicerad - 1 juni 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3121 Allmänmedicin, inre medicin och annan klinisk medicin

Åtkomst av dokument

10.1210/clinem/dgaa078

Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarismAccepterat manuskript från författare, 794 KB
dgaa078Slutlig publicerad version, 747 KBLicens: CC BY

Citera det här

Hietamäki, J., Gregory, L. C., Ayoub, S., Iivonen, A.-P., Vaaralahti, K., Liu, X., Brandstack, N., Buckton, A. J., Laine, T., Känsäkoski, J., Hero, M., Miettinen, P. J., Varjosalo, M., Wakeling, E., Dattani, M. T., & Raivio, T. (2020). Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. Journal of Clinical Endocrinology and Metabolism, 105(6), 1748-1758. https://doi.org/10.1210/clinem/dgaa078

@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",

}

Hietamäki, J, Gregory, LC, Ayoub, S, Iivonen, A-P , Vaaralahti, K , Liu, X , Brandstack, N, Buckton, AJ, Laine, T, Känsäkoski, J , Hero, M , Miettinen, PJ , Varjosalo, M, Wakeling, E, Dattani, MT & Raivio, T 2020, 'Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism', Journal of Clinical Endocrinology and Metabolism, vol. 105, nr. 6, s. 1748-1758. https://doi.org/10.1210/clinem/dgaa078

TY - JOUR

T1 - Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

AU - Hietamäki, Johanna

AU - Gregory, Louise C.

AU - Ayoub, Sandy

AU - Iivonen, Anna-Pauliina

AU - Vaaralahti, Kirsi

AU - Liu, Xiaonan

AU - Brandstack, Nina

AU - Buckton, Andrew J.

AU - Laine, Tiina

AU - Känsäkoski, Johanna

AU - Hero, Matti

AU - Miettinen, Päivi J.

AU - Varjosalo, Markku

AU - Wakeling, Emma

AU - Dattani, Mehul T.

AU - Raivio, Taneli

PY - 2020/6/1

Y1 - 2020/6/1

KW - TBC1D32

KW - hypopituitarism

KW - Sonic Hedgehog signaling

KW - ciliopathy

KW - retinal dystrophy

KW - PITUITARY-GLAND DEVELOPMENT

KW - CYCLE-RELATED KINASE

KW - NEGATIVE REGULATION

KW - HORMONE DEFICIENCY

KW - COMPLEX

KW - GENES

KW - CILIA

KW - FKBP8

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1210/clinem/dgaa078

DO - 10.1210/clinem/dgaa078

M3 - Article

SN - 0021-972X

VL - 105

SP - 1748

EP - 1758

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 6

ER -