Khattab, Ahmed <br/><br/>
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.  [electronic resource] 

 -  Annals of the New York Academy of Sciences  12 2018 
 - 7-11 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1749-6632 
<br/><br/><label>Standard No.: </label>10.1111/nyas.13962  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Base Sequence<br/>Biomarkers--blood<br/>Child, Preschool<br/>Chromosomes, Human, X--genetics<br/>DAX-1 Orphan Nuclear Receptor--genetics<br/>Estriol--blood<br/>Female<br/>Frameshift Mutation<br/>Genetic Association Studies<br/>Glucocorticoids--deficiency<br/>Humans<br/>Hypoadrenocorticism, Familial--blood<br/>Male<br/>Maternal-Fetal Exchange<br/>Middle Aged<br/>Pregnancy<br/>Sequence Alignment