title: Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.
authors.affiliation: Genetics Clinic, Department of Pediatrics, Kasturba Medical College and Hospital Manipal Life Sciences Center Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.forename: Thanvanthri Gururajan
authors.initials: TG
authors.lastname: Vasudevan
authors.forename: Abdul Vahab
authors.initials: AV
authors.lastname: Saadi
authors.forename: Hitesh
authors.initials: H
authors.lastname: Shah
authors.forename: Puthiya Mundyat
authors.initials: PM
authors.lastname: Gopinath
authors.forename: Kapaettu
authors.initials: K
authors.lastname: Satyamoorthy
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D005269:Femur / Q000002:abnormalities; D005360:Fibula / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D005787:Gene Frequency; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics; D010384:Pelvic Bones / Q000002:abnormalities; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014457:Ulna / Q000002:abnormalities; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C092778:WNT7A protein, human; D051153:Wnt Proteins