Clinical features and respiratory complications in Myhre syndrome

European Journal of Medical Genetics

Volumn 54, Issue 6, 2011, Pages

  McGowan, Ruth ^a   Gulati, Ramkumar ^a   McHenry, Pamela ^a   Cooke, Alexander ^a   Butler, Sandra ^a   Keng, Wee Teik ^b   Murday, Victoria ^a   Whiteford, Margo ^a   Dikkers, Frederik G ^c   Sikkema Raddatz, Brigit ^c   van Essen, Ton ^c   Tolmie, John ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b HOSPITAL PULAU PINANG   (Malaysia)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Hearing loss; Limited joint mobility; Muscular build; Myhre syndrome; Thickened skin

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; AIRWAY OBSTRUCTION; ARTHRALGIA; ARTICLE; BRONCHOSCOPY; CALVARIA; CASE REPORT; CHOLECYSTECTOMY; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONSANGUINITY; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GALLSTONE; HEARING IMPAIRMENT; HUMAN; HYPOPLASIA; JOINT STIFFNESS; KYPHOSIS; LEARNING DISORDER; LOW LEVEL LASER THERAPY; MALE; MOSAICISM; MYHRE RUVALCABA SYNDROME; PAIN; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHILTRUM; PHYSICAL EXAMINATION; PULMONARY ARTERY STENOSIS; SHORT STATURE; SKELETON MALFORMATION; SKINFOLD THICKNESS; SLEEP APNEA SYNDROME; STRABISMUS; SYNDACTYLY; SYNDROME; TRACHEA RESECTION; TRACHEA STENOSIS; TRACHEOTOMY; X CHROMOSOME INACTIVATION; X RAY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CRYPTORCHIDISM; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GREAT BRITAIN; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERCALCEMIA; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; LARYNGOSTENOSIS; MALE; METABOLIC DISEASES; NEPHROCALCINOSIS; PEDIGREE; PROGNATHISM; RESPIRATORY SYSTEM; SKIN ABNORMALITIES; TRACHEAL STENOSIS; X CHROMOSOME INACTIVATION;

EID: 80052299856     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.07.001     Document Type: Article

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