TY  - GEN
AU  - Grzeschik,Karl-Heinz
AU  - Bornholdt,Dorothea
AU  - Oeffner,Frank
AU  - König,Arne
AU  - del Carmen Boente,María
AU  - Enders,Herbert
AU  - Fritz,Barbara
AU  - Hertl,Michael
AU  - Grasshoff,Ute
AU  - Höfling,Katja
AU  - Oji,Vinzenz
AU  - Paradisi,Mauro
AU  - Schuchardt,Christian
AU  - Szalai,Zsuzsanna
AU  - Tadini,Gianluca
AU  - Traupe,Heiko
AU  - Happle,Rudolf
TI  - Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
SN  - 1061-4036
PY  - 2007///0904
KW  - Acyltransferases
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Female
KW  - Focal Dermal Hypoplasia
KW  - enzymology
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - deficiency
KW  - Middle Aged
KW  - Pedigree
KW  - Signal Transduction
KW  - genetics
KW  - Wnt Proteins
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng2052
ER  -