Schramm, Charlotte <br/><br/>
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.  [electronic resource] 

 -  American journal of medical genetics. Part A  Feb 2011 
 - 445-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33820  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Anorectal Malformations<br/>Anus, Imperforate--genetics<br/>Child<br/>Chromosome Duplication--genetics<br/>Chromosomes, Human, Pair 18--genetics<br/>Female<br/>Genotype<br/>Humans<br/>Karyotyping<br/>Male<br/>Mutation--genetics<br/>Phenotype<br/>Polymorphism, Single Nucleotide--genetics