Sitzmann, Adam F <br/><br/>
Rare FMR1 gene mutations causing fragile X syndrome: A review.  [electronic resource] 

 -  American journal of medical genetics. Part A  01 2018 
 - 11-18 p.  digital 
<br/><br/> Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.38504  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child<br/>DNA Mutational Analysis<br/>Exons<br/>Facies<br/>Fragile X Mental Retardation Protein<br/>Fragile X Syndrome--diagnosis<br/>Genetic Association Studies<br/>Genotype<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Mutation<br/>Mutation, Missense<br/>Phenotype