Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genes - 30 Mar 2022

Elizabeth Melitza S M, Hokken-Koelega Anita, Visser Jenny A, Joustra Sjoerd D, de Graaff Laura C G

Abstract excerpt

In recent years, variants in immunoglobulin superfamily member 1 (IGSF1) have been associated with congenital hypopituitarism. Initially, IGSF1 variants were only reported in patients with central hypothyroidism (CeH) and macroorchidism. Later on, IGSF1 variants were also reported in patients with additional endocrinopathies, sometimes without macroorchidism. We studied IGSF1 as a new candidate gene for patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Growth Hormone
Share to Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulins

Share to Membrane Proteins

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35456429
DOI: 10.3390/genes13040623
PMCID: PMC9024824

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.PMID 35456429Read ↗

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 GeneSemantic proximity Read ↗

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and MacroorchidismSemantic proximity Read ↗

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.Semantic proximity Read ↗

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.Semantic proximity Read ↗

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.Semantic proximity Read ↗

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.Semantic proximity Read ↗

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.Semantic proximity Read ↗

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.Semantic proximity Read ↗

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.Semantic proximity Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

IGSF1 variants in boys with familial delayed puberty.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.