Gerber, Sylvie <br/><br/>
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.  [electronic resource] 

 -  American journal of human genetics  May 2016 
 - 971-980 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.03.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Aniridia--etiology<br/>Cerebellar Ataxia--etiology<br/>Child<br/>Child, Preschool<br/>Female<br/>Genes, Dominant--genetics<br/>Genes, Recessive--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Inositol 1,4,5-Trisphosphate Receptors--genetics<br/>Intellectual Disability--etiology<br/>Male<br/>Mutation--genetics<br/>Pedigree