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Rhizomelic chondrodysplasia punctata type 1
- ... early adulthood.Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). ... Chondrodysplasia punctata, rhizomelic RCDP RCP ... chondrodysplasia punctata type 1 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 ...
- ... the PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to be more severe ... Steinberg SJ, Fallatah W, Duker A, Bober MB. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2020 Jan 30]. In: ...
- ... 10.1194/jlr.M400364-JLR200. Epub 2005 Feb 1. Citation on PubMed ... in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7(5): ...
- Bone Diseases (National Library of Medicine)Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
- ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building ...
- ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV ... chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle ...