Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene. [electronic resource]
Producer: 20011101Description: 747-51 p. digitalISSN:- 0197-3851
- Adult
- DNA Helicases
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Haplotypes
- Heterozygote
- Humans
- Intellectual Disability -- complications
- Male
- Nuclear Proteins -- genetics
- Pedigree
- Point Mutation
- Pregnancy
- Prenatal Diagnosis
- RNA Splice Sites -- genetics
- RNA Splicing
- Syndrome
- X Chromosome
- X-linked Nuclear Protein
- alpha-Thalassemia -- complications
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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