Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock
Neil V
NV
Izatt
Louise
L
Mann
Anuska
A
Homfray
Tessa
T
Bennett
Christopher
C
Mansour
Sahar
S
Hurst
Jane
J
Fryer
Alan
A
Saggar
Anand K
AK
Barwell
Julian G
JG
Ellard
Sian
S
Clayton
Peter T
PT
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D017354:Point Mutation; D013251:Steroid Isomerases
D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human