{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T08:28:11Z","timestamp":1662971291959},"reference-count":40,"publisher":"EDP Sciences","issue":"8-9","license":[{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"vor","delay-in-days":42,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:p>Les pseudohypoparathyro\u00efdies (PHP) sont des maladies rares, caract\u00e9ris\u00e9es par une r\u00e9sistance \u00e0 l\u2019action r\u00e9nale de la parathormone. Le d\u00e9faut g\u00e9n\u00e9tique est localis\u00e9 au locus <jats:italic>GNAS,<\/jats:italic> qui code la sous-unit\u00e9 alpha stimulatrice des prot\u00e9ines G (G\u03b1<jats:sub>s<\/jats:sub>). Ce locus est le si\u00e8ge de r\u00e9gulations complexes, \u00e9pissage alternatif et empreinte parentale \u00e9teigant de fa\u00e7on tissu-sp\u00e9cifique l\u2019expression de l\u2019all\u00e8le paternel. Des mutations h\u00e9t\u00e9rozygotes perte de fonction, des \u00e9pimutations responsables d\u2019une perte d\u2019expression sont associ\u00e9es \u00e0 un large spectre pathologique : PHP1A, PHP1B, ossification h\u00e9t\u00e9rotopique, ost\u00e9odystophie, ob\u00e9sit\u00e9, retard de croissance <jats:italic>in utero<\/jats:italic>, etc., dont les m\u00e9canismes restent encore incompl\u00e8tement connus.<\/jats:p>","DOI":"10.1051\/medsci\/2022103","type":"journal-article","created":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T07:54:17Z","timestamp":1662969257000},"page":"655-662","source":"Crossref","is-referenced-by-count":0,"title":["Pseudo-hypoparathyro\u00efdie et ses variants"],"prefix":"10.1051","volume":"38","author":[{"given":"Marie-Laure","family":"Kottler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2022,9,12]]},"reference":[{"key":"R1","first-page":"922","volume":"30","author":"Albright","year":"1942","journal-title":"Report of Three Cases. 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