Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)
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Publisher
Springer Vienna
Link
http://link.springer.com/content/pdf/10.1007/978-3-211-69500-5_38
Reference63 articles.
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2. Basbug M, Serin IS, Ozcelik B, Gunes T, Akcakus M, Tayyar M (2005) Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. Fetal Diagn Ther 20: 171–174.
3. Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15: 369–376.
4. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D (1999) Mutations in the gene encoding 3 beta-hydroxysteroid-delta8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet 22: 291–294.
5. Brookhyser KM, Lipson MH, Moser AB, Moser HW, Lachman RS, Rimoin DL (1999) Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. Prenat Diagn 19: 383–385.
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