The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders
Am J Med Genet A
.
2021 Jan;185(1):13-14.
doi: 10.1002/ajmg.a.61984.
Epub 2020 Nov 21.
Author
Rudolf Happle
1
Affiliation
1
Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.
PMID:
33219742
DOI:
10.1002/ajmg.a.61984
No abstract available
Publication types
Editorial
Comment
MeSH terms
Acyltransferases
Anophthalmos*
Focal Dermal Hypoplasia*
Humans
Membrane Proteins
Microphthalmos*
Substances
Membrane Proteins
Acyltransferases
PORCN protein, human