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Article

Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Jun 2022

Liu Yujun, Zhi Xu

Abstract excerpt

Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients....

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Identifiers

PMID: 34231173
DOI: 10.1007/s43032-021-00638-8
PMCID: PMC9110439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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