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chondrodysplasia punctata

Heslo	chondrodysplasia punctata
Heslo anglicky	Chondrodysplasia Punctata
Odkazy	chondrodysplázia kalcifikovaná kongenitálna Conradiho-Hünermanov syndróm dysplasia epiphysialis punctata chondrodysplasia calcificans congenita
Angl. X odkazy	Chondrodystrophia Calcificans Congenita Conradi-Hunermann Syndrome Dysplasia Epiphysialis Punctata Epiphyses, Stippled Stippled Epiphyses
Vysvetľujúca pozn. v angl.	A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Odkazy	(1) - ČLÁNKY
	(1) - KNIHY

predmetové heslo

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