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Article

Identification of HESX1 mutations in Kallmann syndrome.

Fertility and sterility - 1 Jun 2013

Newbern Kayce, Natrajan Nithya, Kim Hyung-Goo, Chorich Lynn P, Halvorson Lisa M, Cameron Richard S, Layman Lawrence C

Abstract excerpt

OBJECTIVE: To determine whether HESX1 mutations are present in patients with idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). DESIGN: Polymerase chain reaction-based DNA sequencing was performed on 217 well-characterized IHH/KS patients. Putative missense mutations were analyzed by sorting intolerant from tolerant (SIFT) and Clustal Ω. SETTING: Academic medical center. PATIENT(S): Two...

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Source

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Identifiers

PMID: 23465708
DOI: 10.1016/j.fertnstert.2013.01.149
PMCID: PMC3888813

Genes

HESX1
IHH

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.

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