title: Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
authors.affiliation: Clinical Genetics Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Anita
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: Simonetta
authors.initials: S
authors.lastname: Rosato
authors.forename: Chiara
authors.initials: C
authors.lastname: Gelmini
authors.forename: Sandro
authors.initials: S
authors.lastname: Reverberi
authors.forename: Silvia
authors.initials: S
authors.lastname: Sassi
authors.forename: Adriano
authors.initials: A
authors.lastname: Ferrari
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Bernhard
authors.initials: B
authors.lastname: Zabel
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Lausch
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010388:Pelvis / Q000002:abnormalities; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C092778:WNT7A protein, human; D051153:Wnt Proteins