Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). [electronic resource]
Producer: 20150331Description: 2079-83 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Bone Diseases, Developmental -- genetics
- Child, Preschool
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Exons
- Facies
- Female
- Hand -- diagnostic imaging
- Heterozygote
- Humans
- Myeloid-Lymphoid Leukemia Protein -- genetics
- Phenotype
- Radiography
- Sequence Deletion
- Syndrome
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Publication Type: Case Reports; Journal Article
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