Balasubramanian, Meena <br/><br/>
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.  [electronic resource] 

 -  European journal of medical genetics  Feb 2019 
 - 109-114 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2018.06.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Congenital Disorders of Glycosylation--genetics<br/>Craniofacial Abnormalities--genetics<br/>Developmental Disabilities--genetics<br/>Female<br/>Humans<br/>Male<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Syndrome<br/>alpha-Mannosidase--genetics