New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

  title={New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.},
  author={Eduardo Fern{\'a}ndez-Rebollo and Beatriz Lecumberri and Intza Garin and Javier Arroyo and Ana Bernal-Chico and Fernando Go{\~n}i and Rosa Ordu{\~n}a and Luis Casta{\~n}o and Guiomar P{\'e}rez de Nanclares},
  journal={European journal of endocrinology},
  volume={163 6},
PURPOSE Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (G(s)α) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in G(s)α-coding exons of GNAS, PHP-Ib is caused by imprinting defects of GNAS. To date, just one patient with PHP and complete paternal uniparental… CONTINUE READING