Homo sapiens phosphate regulating endopeptidase homolog, X-linked, mRN - Nucleotide

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Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients. [In Vivo. 2024]
Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.
Su PH, Yu JS, Wu YZ, Tsai YS, Lo FS, Lin JL, Chao MC, Hsu CC, Ke YY, Chiu PC, et al. In Vivo. 2024 Jan-Feb; 38(1):341-350.
Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling. [Endocrinology. 2023]
Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.
Yadav PS, Kobelski MM, Martins JS, Tao T, Liu ES, Demay MB. Endocrinology. 2023 Nov 20; 165(1).
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. [Calcif Tissue Int. 2023]
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng C, Lin Y, et al. Calcif Tissue Int. 2023 Sep; 113(3):266-275. Epub 2023 Jun 6.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the PHEX gene.

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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN....<br/>Year introduced: 2007

MeSH
Neurocutaneous Syndromes
Neurocutaneous Syndromes
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.<br/>Year introduced: 2000

MeSH
Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may...<br/>Year introduced: 2008

MeSH

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Nucleotide