Calcification of Soft Tissues in a Family, Case Report and Review of Pseudohypoparathyroidism
Journal Title: Journal of Rare Disorders: Diagnosis & Therapy - Year 2017, Vol 3, Issue 6
Abstract
Pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism are rare genetic disorders of calcium metabolism and resistance to the action of Parathormone. Although the genetic details of these conditions are not fully diagnosed, role of gene coding for stimulatory G protein locus was studied and imprinting in its inheritance was proved. We report three cases of a family member with calcification in soft tissues that show Pseudohypoparathyroidism in father and his sister and pseudo-pseudohypoparathyroidism in his son.
Authors and Affiliations
Zamanfar D, Navaeifar MR
Keywords
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- EP ID EP305326
- DOI 10.21767/2380-7245.100169
- Views 72
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