Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. [electronic resource]
Producer: 20070928Description: 1510-3 p. digitalISSN:- 1552-4825
- Child, Preschool
- Chromosome Painting
- Chromosomes, Human, Pair 9 -- genetics
- Chromosomes, Human, X -- genetics
- Ectodermal Dysplasia -- diagnosis
- Ectodysplasins -- genetics
- Female
- Genetic Linkage
- Hair -- abnormalities
- Humans
- Mutation
- RNA, Long Noncoding
- RNA, Untranslated -- genetics
- Sequence Deletion
- Tooth Abnormalities -- genetics
- X Chromosome Inactivation
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Publication Type: Case Reports; Journal Article
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