SAT-546 Discovering the Function of IGSF1 and Its Role in the Hypothalamic-Pituitary-Thyroid Axis

Loss of function mutations in the X-linked immunoglobulin superfamily, member 1 (IGSF1) gene cause congenital central hypothyroidism, hypoprolactinemia, macroorchidism, and the dysregulation of growth hormone and pubertal development. IGSF1 is a type 1 transmembrane protein of unknown function that...

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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Smith, Courtney, Bernard, Daniel
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2019
Fag:
Thyroid
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552037/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-546
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