Rahman, Muhammad M <br/><br/>
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.  [electronic resource] 

 -  Molecular genetics & genomic medicine  10 2019 
 - e00954 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.954  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Chromosomes, Human, Pair 15<br/>Chromosomes, Human, Pair 7<br/>Dipeptidyl-Peptidases and Tripeptidyl-Peptidases<br/>Female<br/>Gene Deletion<br/>Gene Duplication<br/>Genetic Variation<br/>Gonads--metabolism<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Membrane Proteins--genetics<br/>Mosaicism<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Potassium Channels<br/>Receptor, IGF Type 1--genetics