TY  - GEN
AU  - Fichera,M
AU  - Silengo,M
AU  - Spalletta,A
AU  - Giudice,M L
AU  - Romano,C
AU  - Ragusa,A
TI  - Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene
SN  - 0197-3851
PY  - 2001///1101
KW  - Adult
KW  - DNA Helicases
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Haplotypes
KW  - Heterozygote
KW  - Humans
KW  - Intellectual Disability
KW  - complications
KW  - Male
KW  - Nuclear Proteins
KW  - genetics
KW  - Pedigree
KW  - Point Mutation
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - RNA Splice Sites
KW  - RNA Splicing
KW  - Syndrome
KW  - X Chromosome
KW  - X-linked Nuclear Protein
KW  - alpha-Thalassemia
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/pd.142
ER  -