Fichera, M <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0197-3851 
<br/><br/><label>Standard No.: </label>10.1002/pd.142  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>DNA Helicases<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Predisposition to Disease<br/>Haplotypes<br/>Heterozygote<br/>Humans<br/>Intellectual Disability--complications<br/>Male<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Point Mutation<br/>Pregnancy<br/>Prenatal Diagnosis<br/>RNA Splice Sites--genetics<br/>RNA Splicing<br/>Syndrome<br/>X Chromosome<br/>X-linked Nuclear Protein<br/>alpha-Thalassemia--complications