Golas, Monika M <br/><br/>
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.  [electronic resource] 

 -  American journal of medical genetics. Part A  07 2019 
 - 1383-1389 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61166  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Bone Morphogenetic Protein Receptors, Type I--genetics<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 10<br/>Female<br/>Hamartoma Syndrome, Multiple--genetics<br/>Humans<br/>Male<br/>Mosaicism<br/>Mutation<br/>PTEN Phosphohydrolase--genetics