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 - 4 of 4 for Rhizomelic chondrodysplasia "punctata," type 3
  1. Rhizomelic chondrodysplasia punctata 
    ... Rhizomelic chondrodysplasia punctata type 2 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building blocks ( ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  3. PEX7 gene 
    ... analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  4. GNPAT gene 
    ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia ... Biophys Res Commun. 2001 Mar 2;281(3):754-60. doi: 10.1006/bbrc.2001.4407. ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics