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Article

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.

Calcified tissue international - 1 Feb 2022

Lin Yunting, Zhang Wen, Huang Xinjiang, Su Ling, Cai Yanna, Liang Cuili, Rao Min, Liu Li, Zeng Chunhua

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) is the most common form of hypophosphatemic rickets, which is caused by the deficiencies of PHEX gene with an X-linked dominant inheritance pattern. As at least several thousands of XLH patients have been diagnosed, only several males and fewer females with mosaicism of PHEX gene were found. Here we describe an XLH girl with two de novo mosaic variants within the same site...

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Identifiers

PMID: 34487203
DOI: 10.1007/s00223-021-00909-1

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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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Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.PMID 34487203Read ↗

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