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

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.

Medicina (Kaunas, Lithuania) - 27 Feb 2023

Almatrafi Ahmed M, Hibshi Ali M, Basit Sulman

Abstract excerpt

Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary gland including thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin. Rare pathogenic variants in nearly 30 genes have been...

Read the complete abstract on PubMed

Topics

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

Share to Homeodomain Proteins
Share to Hypopituitarism
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 36984475
DOI: 10.3390/medicina59030474
PMCID: PMC10052823

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.PMID 36984475Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencingSemantic proximity Read ↗

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Semantic proximity Read ↗

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.Semantic proximity Read ↗

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.Semantic proximity Read ↗

Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 geneSemantic proximity Read ↗

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome EraSemantic proximity Read ↗

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Semantic proximity Read ↗

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).Semantic proximity Read ↗

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