Cornier, Alberto S <br/><br/>
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.  [electronic resource] 

 -  American journal of human genetics  Jun 2008 
 - 1334-41 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2008.04.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>Basic Helix-Loop-Helix Transcription Factors--genetics<br/>Codon, Nonsense<br/>DNA--genetics<br/>DNA Primers--genetics<br/>Dysostoses--genetics<br/>Female<br/>Founder Effect<br/>Genes, Recessive<br/>Hispanic or Latino--genetics<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Polymorphism, Single Nucleotide<br/>Puerto Rico--ethnology<br/>Ribs--abnormalities<br/>Sequence Homology, Amino Acid<br/>Syndrome<br/>Thoracic Vertebrae--abnormalities