Variable presentation between a mother and a fetus with Goltz syndrome.
Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR, USA.
Elizabeth A
EA
Sellars
Katie
K
Wusik
K Nicole
KN
Weaver
Robert J
RJ
Hopkin
D000217:Acyltransferases; D000328:Adult; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human