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https://hdl.handle.net/11499/6928| Title: | Pseudohypoparathyroidism type IA (PHP-Ia): Maternally inherited GNAS gene mutation | Authors: | Semiz, Serap Düzcan, Füsun Candemir, M. Caner, Vildan Thiele, S. Semiz, E. Hiort, O. |
Keywords: | parathyroid hormone stimulatory guanine nucleotide binding protein thyrotropin thyroxine adolescent Albright syndrome article brain calcification calcium metabolism case report cataract computer assisted tomography echocardiography electrolyte disturbance extrachromosomal inheritance Fahr disease female foot paresthesia frameshift mutation gene deletion hand paresthesia hormone resistance human hyperphosphatemia hypocalcemia laboratory test male mental deficiency parathyroid hormone blood level paresthesia physical examination pseudohypoparathyroidism pseudohypoparathyroidism type Ia pseudopseudohypoparathyroidism short stature tetany thyrotropin blood level thyroxine blood level visual system examination |
Publisher: | Freund Publishing House Ltd | Abstract: | Abstract Not Available | URI: | https://hdl.handle.net/11499/6928 https://doi.org/10.1515/JPEM.2009.22.2.107 |
ISSN: | 0334-018X |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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