Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation

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Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation

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scientific article published on 16 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Case report: An infantile leth ...... teodystrophy due to a mutation

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Case report: An infantile leth ...... teodystrophy due to a mutation

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Case report: An infantile leth ...... teodystrophy due to a mutation

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Case report: An infantile leth ...... teodystrophy due to a mutation

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Case report: An infantile leth ...... teodystrophy due to a mutation

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Case report: An infantile leth ...... teodystrophy due to a mutation

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P1476

Case report: An infantile leth ...... strophy due to a GNAS mutation

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Catherine Wanty

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Claire de Halleux

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Damien Lederer

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Isabelle Maystadt

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Marcela Ruiz

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Melanie Delaunoy

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Olivier Robaux

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Valérie Benoit

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P2860

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GNAS-associated disorders of cutaneous ossification: two different clinical presentations.

Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

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

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

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1933-1940

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scholarly article

case report

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10.1002/CCR3.1739

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English

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P478

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Valérie Leclercq

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2018-08-16T00:00:00Z

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30349702

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6186887

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