Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. [electronic resource]
Producer: 20110315Description: 3148-53 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Child, Preschool
- Chromosome Banding
- Chromosome Breakage
- Chromosome Deletion
- Chromosomes, Artificial, Bacterial
- Chromosomes, Human, Pair 19
- Comparative Genomic Hybridization
- DNA -- genetics
- Ectodermal Dysplasia -- genetics
- Female
- Heart Defects, Congenital -- genetics
- Humans
- Intellectual Disability -- genetics
- Muscle Hypotonia -- genetics
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Physical Chromosome Mapping
- Polymorphism, Single Nucleotide
- Severity of Illness Index
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Publication Type: Case Reports; Comparative Study; Journal Article; Review
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