Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.

Fichera, M

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene. [electronic resource] - Prenatal diagnosis Sep 2001 - 747-51 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0197-3851

10.1002/pd.142 doi


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