Mégarbané, André <br/><br/>
A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.  [electronic resource] 

 -  American journal of medical genetics. Part A  Oct 2004 
 - 176-80 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.30138  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Child, Preschool<br/>Consanguinity<br/>Female<br/>Humans<br/>Limb Deformities, Congenital--diagnostic imaging<br/>Male<br/>Musculoskeletal Abnormalities<br/>Radiography<br/>Retinitis Pigmentosa--pathology<br/>Syndrome