Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying <i>IGSF1</i> Mutations

In recent years, variants in immunoglobulin superfamily member 1 (<i>IGSF1</i>) have been associated with congenital hypopituitarism. Initially, <i>IGSF1</i> variants were only reported in patients with central hypothyroidism (CeH) and macroorchidism. Later on, <i>IGSF1...

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Auteurs principaux: Melitza S. M. Elizabeth, Anita Hokken-Koelega, Jenny A. Visser, Sjoerd D. Joustra, Laura C. G. de Graaff
Format: Artigo
Langue:Inglês
Publié: MDPI AG 2022-03-01
Collection:Genes
Sujets:
<i>IGSF1</i>
pituitary hormones
hypothyroidism
growth hormone
genetic variation
Accès en ligne:https://www.mdpi.com/2073-4425/13/4/623
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