X-Linked Recessive Chondrodysplasia Punctata
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High Quality Content by WIKIPEDIA articles! X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. It has been associated with arylsulfatase E. Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes. Rhizomelic chondrodysplasia punctata (also known as "Peroxisomal biogenesis disorder complementation group 11") is a rare, multisy...
High Quality Content by WIKIPEDIA articles! X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. It has been associated with arylsulfatase E. Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes. Rhizomelic chondrodysplasia punctata (also known as "Peroxisomal biogenesis disorder complementation group 11") is a rare, multisystem developmental disorder characterized by dwarfism due to systemic shortening of the proximal bones (i.e. rhizomelia), specific radiologic abnormalities, joint contractures, congential cataracts, ichthyosis, and severe mental retardation.
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