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Article

De novo mutation of PHEX in a type 1 diabetes patient.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2016

Fang Chen, Li Hui, Li Xiaozhen, Xiao Wenjin, Huang Yun, Cai Wu, Yang Yi, Hu Ji

Abstract excerpt

A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as...

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Source

Identifiers

PMID: 26894575
DOI: 10.1515/jpem-2015-0399

Genes

PHEX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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De novo mutation of PHEX in a type 1 diabetes patient.PMID 26894575Read ↗

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Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.Semantic proximity Read ↗

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