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[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children].

作者信息

Tieder M, Stark H

出版信息

Helv Paediatr Acta. 1979 Sep;34(4):359-67.

PMID:521301
Abstract

A brother and a sister are reported, demonstrating the severe form of childhood idiopathic hypercalciuria associated with dwarfism, renal defects and bone lesions (rickets and osteoporosis). The family are Israeli Beduins from a small village with a highly inbred population. The parents who are first cousins, and the remaining 6 siblings are not affected. This suggests an autosomal recessive form of transmission for the trait.

摘要

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