Clinical features and respiratory complications in Myhre syndrome.
McGowan, Ruth
Clinical features and respiratory complications in Myhre syndrome. [electronic resource] - European journal of medical genetics - e553-9 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2011.07.001 doi
Abnormalities, Multiple--diagnosis
Adolescent
Adult
Cryptorchidism--diagnosis
DNA Mutational Analysis
Diagnosis, Differential
Facies
Female
Growth Disorders--diagnosis
Hand Deformities, Congenital--diagnosis
Humans
Hypercalcemia--diagnosis
Hypertrophy--diagnosis
Intellectual Disability--diagnosis
Joint Diseases--diagnosis
Laryngostenosis--diagnosis
Male
Metabolic Diseases--diagnosis
Nephrocalcinosis--diagnosis
Pedigree
Prognathism--diagnosis
Respiratory System--pathology
Skin Abnormalities--pathology
Tracheal Stenosis--diagnosis
United Kingdom
X Chromosome Inactivation
Clinical features and respiratory complications in Myhre syndrome. [electronic resource] - European journal of medical genetics - e553-9 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2011.07.001 doi
Abnormalities, Multiple--diagnosis
Adolescent
Adult
Cryptorchidism--diagnosis
DNA Mutational Analysis
Diagnosis, Differential
Facies
Female
Growth Disorders--diagnosis
Hand Deformities, Congenital--diagnosis
Humans
Hypercalcemia--diagnosis
Hypertrophy--diagnosis
Intellectual Disability--diagnosis
Joint Diseases--diagnosis
Laryngostenosis--diagnosis
Male
Metabolic Diseases--diagnosis
Nephrocalcinosis--diagnosis
Pedigree
Prognathism--diagnosis
Respiratory System--pathology
Skin Abnormalities--pathology
Tracheal Stenosis--diagnosis
United Kingdom
X Chromosome Inactivation