A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons.

Schoutteten, M K; Bravenboer, B; Seneca, S; Stouffs, K; Velkeniers, B

Schoutteten, M K; Bravenboer, B; Seneca, S; Stouffs, K; Velkeniers, B.

Affiliation

Schoutteten MK; Department of Internal Medicine, Maastricht University Medical Centre, the Netherlands.

Neth J Med ; 75(6): 253-255, 2017 Jul.

Article in En | MEDLINE | ID: mdl-28741586

Subject(s)

Hypercalciuria/genetics; Hypocalcemia/genetics; Hypoparathyroidism/congenital; Mutation; Receptors, Calcium-Sensing/genetics; Adolescent; Adult; Calcium/blood; Exons; Fathers; Genotype; Heterozygote; Humans; Hypoparathyroidism/genetics; Male; Middle Aged; Nuclear Family; Pedigree; Young Adult

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Calcium-Sensing / Hypercalciuria / Hypocalcemia / Hypoparathyroidism / Mutation Limits: Adolescent / Adult / Humans / Male / Middle aged Language: En Journal: Neth J Med Year: 2017 Type: Article Affiliation country: Netherlands

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