Kennerknecht, I <br/><br/>
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.  [electronic resource] 

 -  American journal of medical genetics  Dec 1993 
 - 1166-70 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0148-7299 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.1320470807  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Diagnosis, Differential<br/>Female<br/>Genes, Recessive<br/>Genitalia, Female--abnormalities<br/>Heart Defects, Congenital--genetics<br/>Hernia, Umbilical--genetics<br/>Humans<br/>Karyotyping<br/>Lung--abnormalities<br/>Phenotype<br/>Pulmonary Artery--abnormalities<br/>Syndrome<br/>X Chromosome<br/>Y Chromosome