Brown, David J <br/><br/>
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.  [electronic resource] 

 -  American journal of human genetics  Sep 2002 
 - 618-24 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/342067  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Amino Acid Sequence<br/>Ankylosis--diagnosis<br/>Base Sequence<br/>Bone Morphogenetic Proteins--genetics<br/>Carrier Proteins<br/>Codon, Nonsense--genetics<br/>Female<br/>Frameshift Mutation--genetics<br/>Genes, Dominant--genetics<br/>Heterozygote<br/>Humans<br/>Hyperopia--genetics<br/>Male<br/>Michigan<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype<br/>Radiography<br/>Stapes--abnormalities<br/>Syndrome<br/>Thumb--abnormalities<br/>Toes--abnormalities