Bruel, A-L <br/><br/>
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.  [electronic resource] 

 -  Clinical genetics  07 2018 
 - 182-184 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13211  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Codon, Nonsense<br/>Coloboma--diagnosis<br/>Facies<br/>Genetic Predisposition to Disease<br/>Hedgehog Proteins--genetics<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Magnetic Resonance Imaging<br/>Male<br/>Microcephaly--diagnosis<br/>Pedigree<br/>Phenotype<br/>Exome Sequencing