TY - GEN AU - McGowan,Ruth AU - Gulati,Ramkumar AU - McHenry,Pamela AU - Cooke,Alexander AU - Butler,Sandra AU - Keng,Wee Teik AU - Murday,Victoria AU - Whiteford,Margo AU - Dikkers,Frederik G AU - Sikkema-Raddatz,Brigit AU - van Essen,Ton AU - Tolmie,John TI - Clinical features and respiratory complications in Myhre syndrome SN - 1878-0849 PY - 2012///0111 KW - Abnormalities, Multiple KW - diagnosis KW - Adolescent KW - Adult KW - Cryptorchidism KW - DNA Mutational Analysis KW - Diagnosis, Differential KW - Facies KW - Female KW - Growth Disorders KW - Hand Deformities, Congenital KW - Humans KW - Hypercalcemia KW - Hypertrophy KW - Intellectual Disability KW - Joint Diseases KW - Laryngostenosis KW - Male KW - Metabolic Diseases KW - Nephrocalcinosis KW - Pedigree KW - Prognathism KW - Respiratory System KW - pathology KW - Skin Abnormalities KW - Tracheal Stenosis KW - United Kingdom KW - X Chromosome Inactivation N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1016/j.ejmg.2011.07.001 ER -