Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for Rhizomelic chondrodysplasia punctata type 1
  1. Rhizomelic chondrodysplasia punctata 
    ... 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 ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. PEX7 gene 
    ... 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: ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. GNPAT gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  4. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV ... chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics