Sadowski, Samantha <br/><br/>
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.  [electronic resource] 

 -  Birth defects research  Mar 2017 
 - 251-253 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2472-1727 
<br/><br/><label>Standard No.: </label>10.1002/bdra.23465  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Anophthalmos--diagnosis<br/>Fatal Outcome<br/>Female<br/>Frameshift Mutation<br/>Gene Expression<br/>Humans<br/>Infant<br/>Inheritance Patterns<br/>Lung--abnormalities<br/>Lung Diseases--diagnosis<br/>Male<br/>Membrane Proteins--genetics<br/>Microphthalmos--diagnosis<br/>Mutation, Missense<br/>Pregnancy<br/>Respiratory Insufficiency--diagnosis