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Article

[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2022

Ma Fuhui, Wang Xinling, Reziwanguli Wusiman, Chen Yuan, Guo Yanying

Abstract excerpt

OBJECTIVE: To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype. METHODS: Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the PROKR2 gene,...

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Source

Identifiers

PMID: 36317218
DOI: 10.3760/cma.j.cn511374-20201105-00779

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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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