A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation

Osteopetrosis is a rare genetic disorder characterized by increased bone mineral density (BMD) due to osteoclast failure. T-cell immune regulator 1 (TCIRG1) plays crucial roles on osteoclast function, and its mutation causes autosomal recessive osteopetorosis. However, mutations in TCIRG1 have never...

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Veröffentlicht in:	Journal of Pediatric Endocrinology and Metabolism 2013-05, Vol.26 (5), p.575-577
Hauptverfasser:	Wada, Keiko, Harada, Daisuke, Michigami, Toshimi, Tachikawa, Kanako, Nakano, Yukako, Kashiwagi, Hiroko, Yamashita, Sumie, Sano, Tetsuya, Seino, Yoshiki
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution - genetics Child, Preschool Genes, Dominant Humans Male mutation osteopetorosis Osteopetrosis - congenital Osteopetrosis - diagnostic imaging Osteopetrosis - genetics Radiography Ribs - diagnostic imaging Spine - diagnostic imaging Vacuolar Proton-Translocating ATPases - genetics
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