SLC34A3 Gene Mutation as a Rare Cause of Hypophosphatemia in Two Siblings | Zendy

E Karakilic-Ozturan | Zendy; A P Ozturk | Zendy; Ceyda Oney | Zendy; Aslı Derya Kardelen | Zendy; Zeynep Yürük Yıldırım | Zendy; H Balci | Zendy; Şükran Poyrazoğlu | Zendy; Firdevs Baş | Zendy; Feyza Darendelıler | Zendy

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SLC34A3 Gene Mutation as a Rare Cause of Hypophosphatemia in Two Siblings

Author(s) -

E Karakilic-Ozturan,

A P Ozturk,

Ceyda Oney,

Aslı Derya Kardelen,

Zeynep Yürük Yıldırım,

H Balci,

Şükran Poyrazoğlu,

Firdevs Baş,

Feyza Darendelıler

Publication year - 2022

Publication title -

acta endocrinologica (bucharest)

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.249

H-Index - 13

eISSN - 1843-066X

pISSN - 1841-0987

DOI - 10.4183/aeb.2022.387

Subject(s) - hypophosphatemia , hypercalciuria , short stature , medicine , rickets , wasting , fibroblast growth factor 23 , hypophosphatemic rickets , gene mutation , endocrinology , compound heterozygosity , mutation , pediatrics , parathyroid hormone , gastroenterology , gene , vitamin d and neurology , genetics , biology , urinary system , calcium

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder, which is characterized by renal phosphate wasting, hypercalciuria, increased 1,25-dihydroxyvitamin D, and decreased parathormone (PTH) levels.

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