Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. [electronic resource]
Producer: 20100304Description: 30-7 p. digitalISSN:- 1468-6244
- Abnormalities, Multiple -- genetics
- Acetyltransferases -- genetics
- Chromosomal Proteins, Non-Histone -- genetics
- Codon -- genetics
- Craniofacial Abnormalities -- genetics
- Developmental Disabilities -- genetics
- Female
- Gene Expression
- Genetic Variation
- Humans
- Infant
- Intellectual Disability -- genetics
- Male
- Mutation, Missense
- Phenotype
- Protein Structure, Tertiary -- genetics
- Sequence Deletion
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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