{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T22:39:28Z","timestamp":1785451168933,"version":"3.56.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019B-4"],"award-info":[{"award-number":["2019B-4"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2022B-5"],"award-info":[{"award-number":["2022B-5"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109373h0003"],"award-info":[{"award-number":["20ek0109373h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23ek0109587h0002"],"award-info":[{"award-number":["23ek0109587h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K08178"],"award-info":[{"award-number":["JP20K08178"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. The aim of this study was to clarify the clinical characteristics of each group.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Comprehensive molecular analyses consisting of methylation, copy number, and microsatellite analyses.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Eighty-four patients with PHP1B were included in this study. We classified them into 5 groups, namely, autosomal dominant inheritance-PHP1B (Group 1, G1), sporadic-PHP1B (G2), and atypical-PHP1B (G3-G5), based on the methylation defect patterns in 4 DMRs on the GNAS locus and etiologies and evaluated the clinical findings in each group and compared them among the groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>G2 had the youngest age and the highest serum intact parathyroid hormone levels among the 5 groups at the time of diagnosis. The most common symptoms at the time of diagnosis were tetany in G1, and seizures or loss of consciousness in G2. Albright's hereditary osteodystrophy and PHP-suggestive features were most frequently observed in the G2 proband. Nine patients had neurodevelopmental disorders (NDs) consisting of mild to borderline intellectual disability and\/or developmental delay. There were no significant correlations between the average methylation ratios of 7 CpG sites in the GNAS-A\/B:TSS-DMR and hormonal and biochemical findings.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This study revealed the differences in some clinical characteristics, particularly clinical features, and ages at the time of diagnosis between G2 and other groups and detailed NDs observed in some patients with PHP1B.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad163","type":"journal-article","created":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T16:27:53Z","timestamp":1701361673000},"page":"590-600","source":"Crossref","is-referenced-by-count":6,"title":["(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B"],"prefix":"10.1093","volume":"189","author":[{"given":"Tatsuki","family":"Urakawa","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"},{"name":"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences , Nagasaki 852-8102 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Sano","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"},{"name":"Department of Endocrinology and Metabolism, Shizuoka Children's Hospital , Shizuoka 420-8660 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"},{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine , Sendai 980-8574 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"},{"name":"Department of Pediatrics, Hokkaido University Graduate School of Medicine , Sapporo 060-8648 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirohito","family":"Shima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine , Sendai 980-8574 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motoki","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Saiseikai Shigaken Hospital , Ritto 520-3046 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital , Osaka 534-0021 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai","family":"Nishida","sequence":"additional","affiliation":[{"name":"Diabetes and Endocrinology, Kameda Medical Center , Kamogawa 296-0041 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromune","family":"Narusawa","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiaki","family":"Ohtsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Gunma University Graduate School of Medicine , Maebashi 371-0034 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Matsubara","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences , Nagasaki 852-8102 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Maruo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shiga University of Medical Sciences , Otsu 520-2192 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-9991","authenticated-orcid":false,"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"},{"name":"Department of Biochemistry, Hamamatsu University School of Medicine , Hamamatsu 431-3192 , Japan"},{"name":"Department of Pediatrics, Hamamatsu Medical Center , Hamamatsu 432-8580 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3020-455X","authenticated-orcid":false,"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,12,1]]},"reference":[{"issue":"10","key":"2023122114290686400_lvad163-B1","doi-asserted-by":"crossref","first-page":"4736","DOI":"10.1210\/jc.2002-020183","article-title":"The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads","volume":"87","author":"Mantovani","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2023122114290686400_lvad163-B2","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/s41574-018-0042-0","article-title":"Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement","volume":"14","author":"Mantovani","year":"2018","journal-title":"Nat Rev Endocrinol"},{"issue":"12","key":"2023122114290686400_lvad163-B3","doi-asserted-by":"crossref","first-page":"6316","DOI":"10.1210\/jc.2004-0558","article-title":"Biallelic expression of the gsalpha gene in human bone and white adipose tissue","volume":"89","author":"Mantovani","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2023122114290686400_lvad163-B4","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Clinical review: pseudohypoparathyroidism: diagnosis and treatment","volume":"96","author":"Mantovani","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2023122114290686400_lvad163-B5","doi-asserted-by":"crossref","first-page":"3657","DOI":"10.1210\/jc.2015-4310","article-title":"The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network","volume":"101","author":"Elli","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2023122114290686400_lvad163-B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/EJE-16-0107","article-title":"From pseudohypoparathyroidism to inactivating PTH\/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network","volume":"175","author":"Thiele","year":"2016","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"2023122114290686400_lvad163-B7","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1159\/000508985","article-title":"Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients","volume":"93","author":"Mantovani","year":"2020","journal-title":"Horm Res Paediatr"},{"key":"2023122114290686400_lvad163-B8","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s13148-016-0175-8","article-title":"Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects","volume":"8","author":"Rochtus","year":"2016","journal-title":"Clin Epigenetics."},{"issue":"9","key":"2023122114290686400_lvad163-B9","doi-asserted-by":"crossref","first-page":"2779","DOI":"10.1210\/clinem\/dgab136","article-title":"A novel familial PHP1B variant with incomplete loss of methylation at GNAS-A\/B and enhanced methylation at GNAS-AS2","volume":"106","author":"Hanna","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2023122114290686400_lvad163-B10","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1172\/JCI19159","article-title":"Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS","volume":"112","author":"Bastepe","year":"2003","journal-title":"J Clin Invest"},{"issue":"10","key":"2023122114290686400_lvad163-B11","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1002\/jbmr.4652","article-title":"Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus","volume":"37","author":"Kawashima","year":"2022","journal-title":"J Bone Miner Res"},{"issue":"9","key":"2023122114290686400_lvad163-B12","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1002\/jbmr.4647","article-title":"Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A\/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B)","volume":"37","author":"Miller","year":"2022","journal-title":"J Bone Miner Res"},{"issue":"2","key":"2023122114290686400_lvad163-B13","doi-asserted-by":"crossref","first-page":"e0117691","DOI":"10.1371\/journal.pone.0117691","article-title":"Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus","volume":"10","author":"Perez-Nanclares","year":"2015","journal-title":"PLoS One"},{"issue":"7","key":"2023122114290686400_lvad163-B14","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1210\/jc.2016-1725","article-title":"Complex genomic rearrangement within the GNAS locus associated with familial pseudohypoparathyroidism type 1b","volume":"101","author":"Nakamura","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2023122114290686400_lvad163-B15","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/jbmr.4209","article-title":"A novel GNAS duplication associated with loss-of-methylation restricted to exon A\/B causes pseudohypoparathyroidism type Ib (PHP1B)","volume":"36","author":"Reyes","year":"2021","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2023122114290686400_lvad163-B16","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1487","article-title":"Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib","volume":"37","author":"Bastepe","year":"2005","journal-title":"Nat Genet"},{"issue":"8","key":"2023122114290686400_lvad163-B17","doi-asserted-by":"crossref","first-page":"3993","DOI":"10.1210\/jc.2009-2205","article-title":"Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis","volume":"95","author":"Chillambhi","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2023122114290686400_lvad163-B18","doi-asserted-by":"crossref","first-page":"E863","DOI":"10.1210\/jc.2011-2804","article-title":"A new deletion ablating NESP55 causes loss of maternal imprint of A\/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib","volume":"97","author":"Richard","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2023122114290686400_lvad163-B19","doi-asserted-by":"crossref","first-page":"e4603","DOI":"10.1210\/clinem\/dgab460","article-title":"High-throughput molecular analysis of pseudohypoparathyroidism 1b patients reveals novel genetic and epigenetic defects","volume":"106","author":"Danzig","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2023122114290686400_lvad163-B20","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ejhg.2014.133","article-title":"Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b","volume":"23","author":"Rezwan","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"2023122114290686400_lvad163-B21","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/jbmr.2731","article-title":"Analysis of multiple families with single individuals affected by pseudohypoparathyroidism type Ib (PHP1B) reveals only one novel maternally inherited GNAS deletion","volume":"31","author":"Takatani","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2023122114290686400_lvad163-B22","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1111\/j.1365-2265.2007.02969.x","article-title":"Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus","volume":"67","author":"Linglart","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"2023122114290686400_lvad163-B23","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1111\/cen.13516","article-title":"Clinical and genetic characteristics of pseudohypoparathyroidism in the Chinese population","volume":"88","author":"Chu","year":"2018","journal-title":"Clin Endocrinol"},{"issue":"1","key":"2023122114290686400_lvad163-B24","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1210\/js.2017-00293","article-title":"(Epi)genotype-phenotype analysis in 69 Japanese patients with pseudohypoparathyroidism type I","volume":"2","author":"Sano","year":"2018","journal-title":"J Endocr Soc"},{"issue":"1","key":"2023122114290686400_lvad163-B25","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1136\/jmg.2010.081356","article-title":"Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib","volume":"48","author":"Maupetit-M\u00e9houas","year":"2011","journal-title":"J Med Genet"},{"issue":"8","key":"2023122114290686400_lvad163-B26","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1038\/jhg.2016.45","article-title":"Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?","volume":"61","author":"Sano","year":"2016","journal-title":"J Hum Genet"},{"issue":"3","key":"2023122114290686400_lvad163-B27","doi-asserted-by":"crossref","first-page":"e60105","DOI":"10.1371\/journal.pone.0060105","article-title":"Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome","volume":"8","author":"Fuke","year":"2013","journal-title":"PLoS One"},{"issue":"6","key":"2023122114290686400_lvad163-B28","doi-asserted-by":"crossref","first-page":"2083","DOI":"10.1210\/jc.2017-02780","article-title":"Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patients","volume":"103","author":"Kawashima","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2023122114290686400_lvad163-B29","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.beem.2018.05.006","article-title":"Hypocalcemic disorders","volume":"32","author":"Bove-Fenderson","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"6","key":"2023122114290686400_lvad163-B30","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1210\/jc.2016-3544","article-title":"Progressive development of PTH resistance in patients with inactivating mutations on the maternal allele of GNAS","volume":"102","author":"Usardi","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2023122114290686400_lvad163-B31","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1002\/jbmr.2070","article-title":"Postnatal establishment of allelic G\u03b1s silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous G\u03b1s disruption","volume":"29","author":"Turan","year":"2014","journal-title":"J Bone Miner Res"},{"issue":"8","key":"2023122114290686400_lvad163-B32","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1002\/jbmr.3450","article-title":"Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity","volume":"33","author":"Hanna","year":"2018","journal-title":"J Bone Miner Res"},{"issue":"5","key":"2023122114290686400_lvad163-B33","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1002\/ajmg.a.63154","article-title":"Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion","volume":"191","author":"Vos","year":"2023","journal-title":"Am J Med Genet A"},{"issue":"10","key":"2023122114290686400_lvad163-B34","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1515\/jpem-2017-0226","article-title":"Pseudohypoparathyroidism type 1B associated with assisted reproductive technology","volume":"30","author":"Fernandez","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"5","key":"2023122114290686400_lvad163-B35","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1086\/320117","article-title":"Paternal uniparental isodisomy of chromosome 20q\u2013and the resulting changes in GNAS1 methylation\u2013as a plausible cause of pseudohypoparathyroidism","volume":"68","author":"Bastepe","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"9","key":"2023122114290686400_lvad163-B36","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1111\/jcpp.13560","article-title":"Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden","volume":"63","author":"Lichtenstein","year":"2022","journal-title":"J Child Psychol Psychiatry"},{"issue":"3","key":"2023122114290686400_lvad163-B37","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1212\/01.WNL.0000031431.81555.16","article-title":"Quality standards subcommittee of the American academy of neurology, practice committee of the child neurology society. Practice parameter: evaluation of the child with global developmental delay: report of the quality standards subcommittee of the American academy of neurology and the practice committee of the child neurology society","volume":"60","author":"Shevell","year":"2003","journal-title":"Neurology"},{"issue":"1","key":"2023122114290686400_lvad163-B38","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/s13229-020-00342-5","article-title":"Prevalence and cumulative incidence of autism spectrum disorders and the patterns of co-occurring neurodevelopmental disorders in a total population sample of 5-year-old children","volume":"11","author":"Saito","year":"2020","journal-title":"Mol Autism"},{"issue":"2","key":"2023122114290686400_lvad163-B39","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1365-2265.2007.03025.x","article-title":"Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha","volume":"68","author":"Mouallem","year":"2008","journal-title":"Clin Endocrinol"},{"issue":"9","key":"2023122114290686400_lvad163-B40","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1002\/ajmg.a.37818","article-title":"Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion","volume":"170","author":"de Lange","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2023122114290686400_lvad163-B41","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1210\/jc.2012-2772","article-title":"Active vitamin D (1,25-dihydroxyvitamin D) and bone health in middle-aged and elderly men: the European Male Aging Study (EMAS)","volume":"98","author":"Vanderschueren","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2023122114290686400_lvad163-B42","doi-asserted-by":"crossref","first-page":"E508","DOI":"10.1210\/jc.2013-3086","article-title":"Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations","volume":"99","author":"Elli","year":"2014","journal-title":"J Clin Endocrinol Metab"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/advance-article-pdf\/doi\/10.1093\/ejendo\/lvad163\/53970770\/lvad163.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/189\/6\/590\/54653425\/lvad163.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/189\/6\/590\/54653425\/lvad163.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T14:29:51Z","timestamp":1703168991000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/189\/6\/590\/7457473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,1]]},"references-count":42,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,12,6]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvad163","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,12]]},"published":{"date-parts":[[2023,12,1]]}}}