Novel causative gene for radioulnar synostosis with amegakaryocytic thrombocytopenia
نویسندگان
چکیده
منابع مشابه
Congenital radioulnar synostosis
Congenital radioulnar synostosis is a rare disorder resulting in the fusion of the radius and ulna from birth. Management is conservative. Operative treatment rarely succeeds.
متن کاملFamilial radioulnar synostosis.
A family with proximal radioulnar synostosis segregating in three generations is described. Familial radioulnar synostosis is a rare anomaly; however, the sporadic form is a frequent feature in cases of sex chromosome abnormalities and other syndromes. This disorder has been reported in several ethnic groups, but this is apparently the first example from the black population.
متن کاملFamilial radioulnar synostosis
Beutler, E., and Baluda, M. C. (1966). Improved method for measuring galactose-l-phosphate uridyl transferase activity of erythrocytes. Clinica Chimica Acta, 13, 369-379. Federhol, M. K. (1969). Quantitative studies on the inherited variants of serum alpha-l-antitrypsin. Scandinavian Journal of Clinical and Laboratory Investigation, 23, 97-103. Lejeune, J., Berger, R., Lafourcase, J., and Retho...
متن کاملBilateral Proximal Radioulnar Synostosis
Synostosis or osseous union of any 2 adjacent bones can involve any part of the body. Synostosis between radius and ulna can take two forms, congenital and post Synostosis is a very rare congenital anomaly and most cases a post-traumatic, bilateral in 60% and more common in males. It is often part of syndromes such as Crouzon, Apert's and Poland's,4p Bixler syndrome, Genito multiple osteochondr...
متن کاملFamilial radioulnar synostosis
Beutler, E., and Baluda, M. C. (1966). Improved method for measuring galactose-l-phosphate uridyl transferase activity of erythrocytes. Clinica Chimica Acta, 13, 369-379. Federhol, M. K. (1969). Quantitative studies on the inherited variants of serum alpha-l-antitrypsin. Scandinavian Journal of Clinical and Laboratory Investigation, 23, 97-103. Lejeune, J., Berger, R., Lafourcase, J., and Retho...
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ژورنال
عنوان ژورنال: Japanese Journal of Thrombosis and Hemostasis
سال: 2017
ISSN: 0915-7441,1880-8808
DOI: 10.2491/jjsth.28.16