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Article

'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets.

European journal of endocrinology - 1 Jan 2020

Lin Yunting, Cai Yanna, Xu Jianan, Zeng Chunhua, Sheng Huiying, Yu Yang, Li Xiuzhen, Liu Li

Abstract excerpt

OBJECTIVE: X-linked hypophosphatemic rickets (XLHR) is the most common form of inherited rickets caused by pathogenic variants of PHEX gene with an X-linked dominant inheritance pattern. Precise molecular diagnosis of pathogenic variant will benefit the genetic counseling and prenatal diagnosis for the family with XLHR. Here, we presented an 'isolated' germline mosaicism in the phenotypically normal father of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31658436
DOI: 10.1530/EJE-19-0472

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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