Clinical features and respiratory complications in Myhre syndrome. [electronic resource]
Producer: 20120111Description: e553-9 p. digitalISSN:- 1878-0849
- 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
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Publication Type: Case Reports; Journal Article
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