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Article

Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.

European journal of endocrinology - 1 Oct 2003

Schütt Snjezana M, Schumacher Marius, Holterhus Paul M, Felgenhauer Stefanie, Hiort Olaf

Abstract excerpt

OBJECTIVE: X-linked hypophosphatemia (XLH) is characterized by low serum phosphorus, relative 1,25-dihydroxyvitamin D(3) deficiency and rickets. It is caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). The conventional treatment of X...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14514346
DOI: 10.1530/eje.0.1490317

Genes

PHEX
CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14514346-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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