Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. [electronic resource]
Producer: 20060530Description: 611-7 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Blotting, Western
- Child, Preschool
- Chromosome Aberrations
- Face -- abnormalities
- Female
- Gene Duplication
- Genome, Human
- Humans
- Hypoparathyroidism -- pathology
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- pathology
- Karyotyping
- Microtubule-Associated Proteins -- genetics
- Molecular Chaperones -- genetics
- Mutation
- Nucleic Acid Hybridization -- methods
- Syndrome
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Publication Type: Case Reports; Journal Article; Review
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