Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism | Zendy

Eduardo FernándezRebollo | Zendy; Beatriz Lecumberri | Zendy; Sonia Gaztambide | Zendy; Lorea MartínezIndart | Zendy; Guiomar Pérez de Nanclares | Zendy; Luís Castaño | Zendy

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Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism

Author(s) -

Eduardo FernándezRebollo,

Beatriz Lecumberri,

Sonia Gaztambide,

Lorea MartínezIndart,

Guiomar Pérez de Nanclares,

Luís Castaño

Publication year - 2013

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-4164

Subject(s) - gnas complex locus , pseudohypoparathyroidism , genotype , epigenetics , medical genetics , phenotype , locus (genetics) , medicine , medical diagnosis , molecular genetics , genetics , endocrinology , bioinformatics , gene , biology , pathology , parathyroid hormone , calcium

Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease.

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