Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. [electronic resource]
Producer: 19931004Description: 953-9 p. digitalISSN:- 0964-6906
- Bone and Bones -- abnormalities
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Cleft Palate -- genetics
- Female
- Genes, Dominant
- Genes, Homeobox
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- genetics
- Male
- Microcephaly -- genetics
- Pedigree
- Phenotype
- Waardenburg Syndrome -- classification
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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