SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases | Zendy

Shirin HasaniRanjbar | Zendy; HaniehSadat Ejtahed | Zendy; Mahsa M. Amoli | Zendy; Fatemeh Bitarafan | Zendy; Mostafa Qorbani | Zendy; Akbar Soltani | Zendy; Bahareh Yarjoo | Zendy

Open Access

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases

Author(s) -

Shirin HasaniRanjbar,

HaniehSadat Ejtahed,

Mahsa M. Amoli,

Fatemeh Bitarafan,

Mostafa Qorbani,

Akbar Soltani,

Bahareh Yarjoo

Publication year - 2018

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.0057

Subject(s) - hypercalciuria , medicine , hypophosphatemia , short stature , rickets , hypophosphatemic rickets , compound heterozygosity , endocrinology , proband , tubulopathy , kidney stones , gastroenterology , pediatrics , vitamin d and neurology , kidney , mutation , urinary system , genetics , biology , gene

To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).

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