A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.
Masayuki
M
Asano
Taku
T
Fujimura
Chihiro
C
Wakusawa
Yoko
Y
Aoki
Yoichi
Y
Matsubara
Setsuya
S
Aiba
D000217:Acyltransferases; D044466:Asian People; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D006801:Humans; D007564:Japan; D008565:Membrane Proteins / Q000235:genetics*; D017384:Sequence Deletion
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human