Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

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Veröffentlicht in:British journal of dermatology (1951) 2006-04, Vol.154 (4), p.766-769
Hauptverfasser: Feldmeyer, L., Mevorah, B., Grzeschik, K.H., Huber, M., Hohl, D.
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container_issue 4
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container_title British journal of dermatology (1951)
container_volume 154
creator Feldmeyer, L.
Mevorah, B.
Grzeschik, K.H.
Huber, M.
Hohl, D.
description
doi_str_mv 10.1111/j.1365-2133.2006.07137.x
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ispartof British journal of dermatology (1951), 2006-04, Vol.154 (4), p.766-769
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source Wiley-Blackwell Journals; MEDLINE; Oxford University Press Journals
subjects Adult
Base Sequence
Biological and medical sciences
Chondrodysplasia Punctata - genetics
Chondrodysplasia Punctata - pathology
Conradi-Hünermann-Happle syndrome
Dermatology
Diseases of the osteoarticular system
Dyskeratosis
EBP mutation
Female
Frameshift Mutation
Humans
Ichthyosis, X-Linked - genetics
Ichthyosis, X-Linked - pathology
Infant, Newborn
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Steroid Isomerases - genetics
X-linked dominant chondrodysplasia punctata
X-linked dominant ichthyosis
title Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
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