A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. [electronic resource]
Producer: 20150819Description: 1277-83 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Adenosine Triphosphatases -- genetics
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 13
- Comparative Genomic Hybridization
- Dermatitis, Atopic
- Eczema
- Facies
- Female
- HMGB1 Protein -- genetics
- Humans
- Intellectual Disability
- Karyotyping
- Katanin
- Male
- Microcephaly
- Phenotype
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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