Article
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
The Journal of clinical endocrinology and metabolism - 1 May 2020
Dharmaraj Poonam, Gorvin Caroline M, Soni Astha, Nelhans Nick D, Olesen Mie K, Boon Hannah, Cranston Treena, Thakker Rajesh V, Hannan Fadil M
Abstract excerpt
CONTEXT: Familial hypocalciuric hypercalcemia type 1 (FHH1) is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR) and is considered a benign condition associated with mild-to-moderate hypercalcemia. However, the children of parents with FHH1 can develop a variety of disorders of calcium homeostasis in infancy. OBJECTIVE: The objective of this work is to characterize the range of...
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