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

PROKR2 mutations in autosomal recessive Kallmann syndrome.

Fertility and sterility - 1 Mar 2013

Tommiska Johanna, Toppari Jorma, Vaaralahti Kirsi, Känsäkoski Johanna, Laitinen Eeva-Maria, Noisa Parinya, Kinnala Anne, Niinikoski Harri, Raivio Taneli

Abstract excerpt

OBJECTIVE: To investigate the inheritance pattern of two missense PROKR2 changes within a single family. DESIGN: This is a descriptive study. SETTING: Tertiary referral center. PATIENT(S): The proband and his brother, both with congenital hypogonadotropic hypogonadism and anosmia (Kallmann syndrome). INTERVENTION(S): Clinical and biochemical evaluation of Kallmann syndrome. Sequence analysis of the coding exons...

Read the complete abstract on PubMed

Topics

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

Share to Family Health
Share to Kallmann Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Receptors, G-Protein-Coupled

Share to Receptors, Peptide

Share to Sertoli Cells

Share to Siblings

Share to Signal Transduction

Source

Identifiers

PMID: 23200691
DOI: 10.1016/j.fertnstert.2012.11.003

Genes

PROKR2
FGF8
FGFR1
PROK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PROKR2 mutations in autosomal recessive Kallmann syndrome.PMID 23200691Read ↗

Kallmann syndrome with a Tyr113His PROKR2 mutation.Semantic proximity Read ↗

Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation.Semantic proximity Read ↗

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.Semantic proximity Read ↗

Kallmann syndrome.Semantic proximity Read ↗

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: Case ReportSemantic proximity Read ↗

Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and <i>KAL1</i>Semantic proximity Read ↗

Clinical genetics of Kallmann syndrome.Semantic proximity Read ↗

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.Semantic proximity Read ↗

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.Semantic proximity Read ↗

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.Semantic proximity Read ↗

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann SyndromeSemantic proximity Read ↗

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.Semantic proximity Read ↗

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