{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T17:04:54Z","timestamp":1779728694987,"version":"3.53.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2026,5]]},"DOI":"10.1016\/j.ando.2026.102556","type":"journal-article","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:39:10Z","timestamp":1778153950000},"page":"102556","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013phenotype correlation and challenges in mutation detection in McCune\u2013Albright syndrome: A retrospective study of a French cohort"],"prefix":"10.1016","volume":"87","author":[{"given":"Camille","family":"Giannetti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Aouchiche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Lagarde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doriane","family":"Barets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Mallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Salenave","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Brue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Reynaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2026.102556_bib0160","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ando.2026.102556_bib0165","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.annder.2012.03.022","article-title":"Mosa\u00efcisme pigmentaire pigmentary mosaicism","volume":"139","author":"Chiaverini","year":"2012","journal-title":"Annales de dermatologie et de v\u00e9n\u00e9rologie"},{"key":"10.1016\/j.ando.2026.102556_bib0170","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-22-0171","article-title":"Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?","volume":"187","author":"Coppin","year":"2022","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2026.102556_bib0175","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/s41436-019-0598-7","article-title":"Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing","volume":"22","author":"Evans","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.ando.2026.102556_bib0180","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-3-12","article-title":"McCune-Albright syndrome","volume":"3","author":"Dumitrescu","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2026.102556_bib0185","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.1986.tb01261.x","article-title":"The McCune-Albright syndrome: a lethal gene surviving by mosaicism","volume":"29","author":"Happle","year":"2008","journal-title":"Clin Genet"},{"key":"10.1016\/j.ando.2026.102556_bib0190","first-page":"14","article-title":"Best practice management guidelines for fibrous dysplasia\/McCune-Albright syndrome: a consensus statement from the FD\/MAS international consortium","author":"Javaid","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2026.102556_bib0195","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1359\/jbmr.2000.15.1.120","article-title":"Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone","volume":"15","author":"Bianco","year":"2000","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.ando.2026.102556_bib0200","first-page":"4","article-title":"Osteitis fibrosa cystica; the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism","volume":"52","author":"McCune","year":"1936","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.ando.2026.102556_bib0205","first-page":"675","article-title":"Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocr Rev"},{"key":"10.1016\/j.ando.2026.102556_bib0210","doi-asserted-by":"crossref","first-page":"5152","DOI":"10.1073\/pnas.89.11.5152","article-title":"Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome","volume":"89","author":"Schwindinger","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ando.2026.102556_bib0215","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJM193704292161701","article-title":"Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females","volume":"216","author":"Albright","year":"1937","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2026.102556_bib0220","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ando.2016.01.002","article-title":"McCune\u2013Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases","volume":"77","author":"Agopiantz","year":"2016","journal-title":"Ann Endocrinol (Paris)"},{"key":"10.1016\/j.ando.2026.102556_bib0225","series-title":"Dysplasie fibreuse des os et syndrome de McCune-Albright Protocole national de diagnostic et de soins","author":"Dur","year":"2012"},{"key":"10.1016\/j.ando.2026.102556_bib0230","first-page":"76","article-title":"Fibrous dysplasia\/McCune-Albright Syndrome","volume":"86","author":"Szymczuk","year":"2024","journal-title":"Rev Du Rhum Monogr"},{"key":"10.1016\/j.ando.2026.102556_bib0235","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2353\/jmoldx.2010.090188","article-title":"Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications","volume":"12","author":"Tsiatis","year":"2010","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.ando.2026.102556_bib0240","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1210\/jc.2003-031225","article-title":"Activating Gs\u03b1 mutations: analysis of 113 patients with signs of McCune-Albright Syndrome - a European Collaborative Study","volume":"89","author":"Lumbroso","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2026.102556_bib0245","first-page":"2489","article-title":"A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright Syndrome or isolated fibrous dysplasia","volume":"87","author":"Lietman","year":"2005","journal-title":"J Bone Jt Surg"},{"key":"10.1016\/j.ando.2026.102556_bib0250","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1530\/eje.1.02301","article-title":"Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples","volume":"155","author":"Kalfa","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ando.2026.102556_bib0255","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.jpeds.2018.09.070","article-title":"Using digital droplet polymerase chain reaction to detect the Mosaic GNAS mutations in whole blood DNA or circulating cell-free DNA in fibrous dysplasia and McCune-Albright syndrome","volume":"205","author":"Romanet","year":"2019","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2026.102556_bib0260","first-page":"619","article-title":"Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives","volume":"77","author":"Denis","year":"2019","journal-title":"Ann Biol Clin (Paris)"},{"key":"10.1016\/j.ando.2026.102556_bib0265","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/nrclinonc.2013.110","article-title":"Liquid biopsy: monitoring cancer-genetics in the blood","volume":"10","author":"Crowley","year":"2013","journal-title":"Nat Rev Clin Oncol"},{"key":"10.1016\/j.ando.2026.102556_bib0270","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2024.1377716","article-title":"The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis","volume":"15","author":"Zhang","year":"2024","journal-title":"Front Genet"},{"key":"10.1016\/j.ando.2026.102556_bib0275","first-page":"20","article-title":"Fibrous dysplasia\/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic\/translational research","author":"Palmisano","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ando.2026.102556_bib0280","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/jbmr.4766","article-title":"Identification of GNAS variants in circulating cell-free DNA from patients with fibrous dysplasia\/McCune Albright syndrome","volume":"38","author":"Roszko","year":"2023","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.ando.2026.102556_bib0285","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s00277-013-1964-1","article-title":"The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis","volume":"93","author":"Erben","year":"2014","journal-title":"Ann Hematol"},{"key":"10.1016\/j.ando.2026.102556_bib0290","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1111\/all.12409","article-title":"The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease","volume":"69","author":"Hoermann","year":"2014","journal-title":"Allergy"},{"key":"10.1016\/j.ando.2026.102556_bib0295","doi-asserted-by":"crossref","first-page":"120","DOI":"10.3390\/genes15010120","article-title":"Choosing the best tissue and technique to detect Mosaicism in fibrous dysplasia\/McCune-Albright Syndrome (FD\/MAS)","volume":"15","author":"Vado","year":"2024","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.ando.2026.102556_bib0300","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1210\/clinem\/dgad671","article-title":"Serum phosphorus as a driver of skeletal morbidity in fibrous dysplasia","volume":"109","author":"Gun","year":"2024","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2026.102556_bib0305","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1016\/j.ejrad.2014.06.012","article-title":"Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines","volume":"83","author":"Bousson","year":"2014","journal-title":"Eur J Radiol"},{"key":"10.1016\/j.ando.2026.102556_bib0310","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1002\/jbmr.3738","article-title":"18 F-NaF PET\/CT imaging in fibrous dysplasia of bone","volume":"34","author":"Papadakis","year":"2019","journal-title":"J Bone Miner Res"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426626000776?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426626000776?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T16:39:02Z","timestamp":1779727142000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426626000776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["S0003426626000776"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2026.102556","relation":{},"ISSN":["0003-4266"],"issn-type":[{"value":"0003-4266","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype\u2013phenotype correlation and challenges in mutation detection in McCune\u2013Albright syndrome: A retrospective study of a French cohort","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2026.102556","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2026.102514","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"102556"}}