Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. [electronic resource]
Producer: 20050816Description: 528-40 p. digitalISSN:- 1018-4813
- Abnormalities, Multiple -- genetics
- Cell Line
- Child
- Child, Preschool
- Chromosomes, Human, Pair 11 -- genetics
- Craniofacial Dysostosis -- genetics
- Exostoses, Multiple Hereditary -- genetics
- Female
- Gene Deletion
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- genetics
- Male
- Microsatellite Repeats
- Parietal Bone -- abnormalities
- Phenotype
- Physical Chromosome Mapping
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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