title: Myhre syndrome with facial paralysis and branch pulmonary stenosis.
authors.affiliation: Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
authors.forename: Lara
authors.initials: L
authors.lastname: Hawkes
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
mesh_terms: D002675:Child, Preschool; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005158:Facial Paralysis / Q000235:genetics* / Q000503:physiopathology; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006984:Hypertrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007592:Joint Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D011666:Pulmonary Valve Stenosis / Q000235:genetics / Q000503:physiopathology; D051901:Smad4 Protein / Q000235:genetics
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein