Hancarova, Miroslava <br/><br/>
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  10 2019 
 - 2119-2123 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61302  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Female<br/>Gonads--pathology<br/>Humans<br/>Male<br/>Mosaicism<br/>Mutation--genetics<br/>NFI Transcription Factors--chemistry<br/>Pedigree<br/>Pregnancy<br/>Siblings<br/>Syndrome<br/>Young Adult