Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. [electronic resource]
Producer: 20040224Description: 430-4 p. digitalISSN:- 1098-3600
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 17 -- genetics
- Cytogenetic Analysis
- Electrophoresis, Gel, Pulsed-Field
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intellectual Disability -- genetics
- Phenotype
- Proteins -- genetics
- Sleep Disorders, Intrinsic -- genetics
- Syndrome
- Trans-Activators
- Transcription Factors
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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