Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

Abstract Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy. Patients affected by this disorder present with imprinting defects in the complex GNAS locus. Microdeletions w...

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Veröffentlicht in:	Bone (New York, N.Y.) N.Y.), 2011-03, Vol.48 (3), p.659-662
Hauptverfasser:	Bastepe, Murat, Altug-Teber, Özge, Agarwal, Chhavi, Oberfield, Sharon E, Bonin, Michael, Jüppner, Harald
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Case reports Child Child, Preschool chromosome 20 Chromosomes, Human, Pair 20 - genetics Disease Progression Endocrinopathies Female Follow-Up Studies Fundamental and applied biological sciences. Psychology Genomes Hormones Humans Imprinting Male Medical sciences Methylation Non tumoral diseases. Target tissue resistance. Benign neoplasms Orthopedics Osteodystrophy Parathyroid hormone Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Pedigree Pseudohypoparathyroidism Pseudohypoparathyroidism - genetics Single-nucleotide polymorphism Uniparental Disomy - genetics Vertebrates: anatomy and physiology, studies on body, several organs or systems
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