Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. [electronic resource]
Producer: 20201019Description: 103658 p. digitalISSN:- 1878-0849
- Abnormalities, Multiple -- genetics
- Cataract -- congenital
- Cohort Studies
- Databases, Genetic
- Female
- Genes, X-Linked
- Heart Septal Defects -- diagnosis
- Humans
- Infant
- Infant, Newborn
- Microphthalmos -- diagnosis
- Mosaicism
- Oligonucleotide Array Sequence Analysis
- Pedigree
- Phenotype
- Point Mutation
- Proto-Oncogene Proteins -- genetics
- Rare Diseases -- genetics
- Repressor Proteins -- genetics
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Case Reports; Journal Article
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