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Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report

RATIONALE: Autosomal dominant hypocalcaemia type 1 (ADH1) is a genetic disease characterized by benign hypocalcemia, inappropriately low parathyroid hormone levels and mostly hypercalciuria. It is caused by the activating mutations of the calcium-sensing receptor gene (CASR), which produces a left-s...

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Detalles Bibliográficos
Autores principales:	Ji, Yubing, Kang, Chunyang, Chen, Jiajun, Zhang, Lei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	4300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238359/ https://www.ncbi.nlm.nih.gov/pubmed/34160437 http://dx.doi.org/10.1097/MD.0000000000026443

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