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12. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. Barth PG, Wanders RJ, Schutgens RB, Staalman CR. Am J Med Genet; 1996 Mar 15; 62(2):164-8. PubMed ID: 8882397 [Abstract] [Full Text] [Related]
13. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Rizzo WB, Craft DA, Judd LL, Moser HW, Moser AB. Biochem Med Metab Biol; 1993 Aug 15; 50(1):93-102. PubMed ID: 8373640 [Abstract] [Full Text] [Related]
14. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG. Dev Med Child Neurol; 2000 Jul 15; 42(7):492-5. PubMed ID: 10972423 [Abstract] [Full Text] [Related]
20. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]. Omobono E, Goetsch W. Minerva Pediatr; 1993 Mar 15; 45(3):117-21. PubMed ID: 8341225 [Abstract] [Full Text] [Related] Page: [Next] [New Search]