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Article

[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2017

Liu Z Q, Chen X B, Song F Y, Gao K, Qiu M F, Qian Y, Du M

Abstract excerpt

Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform,...

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Source

Identifiers

PMID: 29141319
DOI: 10.3760/cma.j.issn.0578-1310.2017.11.014

Genes

ENPP1
PHEX

Variants

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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