Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.
Obermannova, Barbora
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
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1432-1076
10.1007/s00431-008-0794-y doi
Adult
Female
Heterozygote
Humans
Hypercalcemia--complications
Hyperparathyroidism--complications
Infant, Newborn
Parathyroidectomy
Phenotype
Point Mutation--genetics
Pregnancy
Prenatal Diagnosis
Receptors, Calcium-Sensing--genetics
Severity of Illness Index
Vitamin D Deficiency--diagnosis
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
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1432-1076
10.1007/s00431-008-0794-y doi
Adult
Female
Heterozygote
Humans
Hypercalcemia--complications
Hyperparathyroidism--complications
Infant, Newborn
Parathyroidectomy
Phenotype
Point Mutation--genetics
Pregnancy
Prenatal Diagnosis
Receptors, Calcium-Sensing--genetics
Severity of Illness Index
Vitamin D Deficiency--diagnosis