title: Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
authors.affiliation: Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, 31059 Toulouse cedex 9, France. maella.severino@hotmail.fr.
authors.forename: Maella
authors.initials: M
authors.lastname: Severino-Freire
authors.forename: Aude
authors.initials: A
authors.lastname: Maza
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Lombardi
authors.forename: Emilie
authors.initials: E
authors.lastname: Tournier
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Juliette
authors.initials: J
authors.lastname: Mazereeuw-Hautier
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D000293:Adolescent; D004252:DNA Mutational Analysis; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human