ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0017.1-4 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.4. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

J Hietamaki , LC Gregory , S Ayoub , AP Iivonen , K Vaaralahti , X Liu , N Brandstack , AJ Buckton , T Laine , J Kansakoski , M Hero , PJ Miettinen , M Varjosalo , E Wakeling , MT Dattani , T Raivio

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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