Hughes, James N, Aubert, Matthew, Heatlie, Jessica, Gardner, Alison, Gecz, Jozef, Morgan, Thomas, Belsky, Joseph and Thomas, Paul Q (2016) Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clinical endocrinology, 85 (4). pp. 609-615. ISSN 1365-2265

Abstract

IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism disorder characterized by loss-of-function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. The phenotypic spectrum and intrafamilial variability associated with IDS remain unclear due to a paucity of large, well-characterized pedigrees. Here, we present phenotypic analysis and molecular characterization of a five-generation pedigree with IGSF1 deficiency containing 10 affected males.

Item Type:	Article
Date Deposited:	04 Oct 2016 00:45
Last Modified:	04 Oct 2016 00:45
URI:	https://oak.novartis.com/id/eprint/31107