A novel Xp22.13 microdeletion in Nance-Horan syndrome. [electronic resource]
Producer: 20180529Description: 866-868 p. digitalISSN:- 2472-1727
- Cataract -- congenital
- Chromosome Deletion
- Chromosomes, Human, X -- genetics
- Codon, Nonsense
- Comparative Genomic Hybridization -- methods
- Exons -- genetics
- Genes, X-Linked -- genetics
- Genetic Diseases, X-Linked -- genetics
- Humans
- Infant
- Intellectual Disability -- genetics
- Intercellular Signaling Peptides and Proteins
- Male
- Membrane Proteins
- Mutation
- Nuclear Proteins -- genetics
- Pedigree
- Phenotype
- Polycomb-Group Proteins -- genetics
- Proteins -- genetics
- Sex Chromosome Aberrations -- embryology
- Syndrome
- Tooth Abnormalities -- genetics
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Publication Type: Case Reports; Journal Article
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