Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. [electronic resource]
Producer: 20110928Description: 256-61 p. digitalISSN:- 1878-0849
- Abnormalities, Multiple -- genetics
- Adolescent
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 7 -- genetics
- Comparative Genomic Hybridization
- Face -- abnormalities
- Female
- Growth Disorders -- pathology
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping
- Male
- Microcephaly -- pathology
- Nuclear Proteins -- genetics
- Syndrome
- Twist-Related Protein 1 -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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