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.Pituitary function was assessed in all available family members (n = 8 affected males and n = 5 carrier females). Molecular characterization of the family was performed by Sanger sequencing of PCR products amplified from the IGSF1 locus and by ar...
International audienceIntroduction: Congenital central hypothyroidism (CCH) is a rare disorder that ...
IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (...
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency...
IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism d...
Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary ...
A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by con...
In recent years, variants in immunoglobulin superfamily member 1 (IGSF1) have been associated with c...
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency...
Context: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1...
Objective Loss-of-function mutations in IGSF1 result in X-linked central congenital hypothyroidism (...
International audienceDesign Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may...
Background: Loss-of-function mutations in immunoglobulin superfamily member 1 (IGSF1) cause an X-lin...
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. H...
The X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothala...
textabstractIGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macro...
International audienceIntroduction: Congenital central hypothyroidism (CCH) is a rare disorder that ...
IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (...
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency...
IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism d...
Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary ...
A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by con...
In recent years, variants in immunoglobulin superfamily member 1 (IGSF1) have been associated with c...
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency...
Context: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1...
Objective Loss-of-function mutations in IGSF1 result in X-linked central congenital hypothyroidism (...
International audienceDesign Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may...
Background: Loss-of-function mutations in immunoglobulin superfamily member 1 (IGSF1) cause an X-lin...
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. H...
The X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothala...
textabstractIGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macro...
International audienceIntroduction: Congenital central hypothyroidism (CCH) is a rare disorder that ...
IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (...
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency...