Dharmaraj, Poonam

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). [electronic resource] - The Journal of clinical endocrinology and metabolism 05 2020

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1945-7197

10.1210/clinem/dgaa111 doi


Child of Impaired Parents
Female
Germ-Line Mutation
HEK293 Cells
Humans
Hypercalcemia--congenital
Hypocalcemia--congenital
Infant
Infant, Newborn
Infant, Newborn, Diseases--diagnosis
Models, Molecular
Mothers
Nuclear Family
Pedigree
Phenotype
Receptors, Calcium-Sensing--chemistry
Seizures--congenital