Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. [electronic resource]
Producer: 20100412Description: 713-7 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, X -- genetics
- Coenzyme A Ligases -- genetics
- Collagen Type IV -- genetics
- DNA Mutational Analysis
- Facies
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Language Development Disorders -- genetics
- Male
- X-Linked Intellectual Disability -- genetics
- Nephritis, Hereditary -- genetics
- Pedigree
- Phenotype
- Long-Chain-Fatty-Acid-CoA Ligase
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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