Obermannova, Barbora <br/><br/>
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.  [electronic resource] 

 -  European journal of pediatrics  May 2009 
 - 569-73 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1076 
<br/><br/><label>Standard No.: </label>10.1007/s00431-008-0794-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Female<br/>Heterozygote<br/>Humans<br/>Hypercalcemia--complications<br/>Hyperparathyroidism--complications<br/>Infant, Newborn<br/>Parathyroidectomy<br/>Phenotype<br/>Point Mutation--genetics<br/>Pregnancy<br/>Prenatal Diagnosis<br/>Receptors, Calcium-Sensing--genetics<br/>Severity of Illness Index<br/>Vitamin D Deficiency--diagnosis