TY  - GEN
AU  - Obermannova,Barbora
AU  - Banghova,Karolina
AU  - Sumník,Zdenek
AU  - Dvorakova,Hana M
AU  - Betka,Jan
AU  - Fencl,Filip
AU  - Kolouskova,Stanislava
AU  - Cinek,Ondrej
AU  - Lebl,Jan
TI  - Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
SN  - 1432-1076
PY  - 2009///0727
KW  - Adult
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hypercalcemia
KW  - complications
KW  - Hyperparathyroidism
KW  - Infant, Newborn
KW  - Parathyroidectomy
KW  - Phenotype
KW  - Point Mutation
KW  - genetics
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - Receptors, Calcium-Sensing
KW  - Severity of Illness Index
KW  - Vitamin D Deficiency
KW  - diagnosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00431-008-0794-y
ER  -