Consensus Résumé 2020: Consensus Statement Hormone Research Paediatrics

Recommendations for diagnosis and traitment of pseudohypoparathyroidism...

Pediatric Endocrinology Reviews - February 2017

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations

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Dental and craniofacial features associated with GNAS Loss of Function mutations. Européan Jouranl of Orthodontics 2019.

Analyse des manifestations cranio-fasciales et dentaires...

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The New England Journal of Medicine - January 2017

Paternally  Inherited Inactivatinfg Mutations of the Gnas1  Gene in Progressive Osseous Heteroplasia

European Journal of Endocrinologie - 2016

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

The Journal of Clinical Investigation - October 2003

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS