{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:10:35Z","timestamp":1779930635702,"version":"3.53.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:00:00Z","timestamp":1598227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:00:00Z","timestamp":1598227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EG110\/15\u20131"],"award-info":[{"award-number":["EG110\/15\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n<jats:title>Abstract<\/jats:title>\n<jats:p>Molecular diagnostic testing of the 11p15.5-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the broad spectrum of molecular defects and their mosaic occurrence. Additionally, the decision on the molecular testing algorithm is hindered by their clinical heterogeneity. However, the precise identification of the type of defect is often a prerequisite for the clinical management and genetic counselling. Four major molecular alterations (epimutations, uniparental disomies, copy number variants, single nucleotide variants) have been identified, but their frequencies vary between SRS and BWS. Due to their molecular aetiology, epimutations in both disorders as well as upd(11)pat in BWS are particular prone to mosaicism which might additionally complicate the interpretation of testing results. We report on our experience of molecular analysis in a total cohort of 1448 patients referred for diagnostic testing of BWS and SRS, comprising a dataset from 737 new patients and from 711 cases from a recent study. Though the majority of positively tested patients showed the expected molecular results, we identified a considerable number of clinically unexpected molecular alterations as well as not yet reported changes and discrepant mosaic distributions. Additionally, the rate of multilocus imprinting disturbances among the patients with epimutations and uniparental diploidies could be further specified. Altogether, these cases show that comprehensive testing strategies have to be applied in diagnostic testing of SRS and BWS. The precise molecular diagnosis is required as the basis for a targeted management (e.g. ECG (electrocardiogram) and tumour surveillance in BWS, growth treatment in SRS). The molecular diagnosis furthermore provides the basis for genetic counselling. However, it has to be considered that recurrence risk calculation is determined by the phenotypic consequences of each molecular alteration and mechanism by which the alteration arose.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Key messages<\/jats:title>\n<jats:p><jats:list list-type=\"bullet\">\n<jats:list-item>\n<jats:p>The detection rates for the typical molecular defects of Beckwith-Wiedemann syndrome or Silver-Russell syndrome (BWS, SRS) are lower in routine cohorts than in clinically well-characterised ones.<\/jats:p>\n<\/jats:list-item>\n<jats:list-item>\n<jats:p>A broad spectrum of (unexpected) molecular alterations in both disorders can be identified.<\/jats:p>\n<\/jats:list-item>\n<jats:list-item>\n<jats:p>Multilocus imprinting disturbances (MLID) are less frequent in SRS than expected.<\/jats:p>\n<\/jats:list-item>\n<jats:list-item>\n<jats:p>The frequency of MLID and uniparental diploidy in BWS is confirmed.<\/jats:p>\n<\/jats:list-item>\n<jats:list-item>\n<jats:p>Mosaicism is a diagnostic challenge in BWS and SRS.<\/jats:p>\n<\/jats:list-item>\n<jats:list-item>\n<jats:p>The precise determination of the molecular defects affecting is the basis for a targeted clinical management and genetic counselling.<\/jats:p>\n<\/jats:list-item>\n<\/jats:list><\/jats:p>\n<\/jats:sec>","DOI":"10.1007\/s00109-020-01966-z","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T21:02:44Z","timestamp":1598302964000},"page":"1447-1455","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important"],"prefix":"10.1007","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Br\u00fcck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cordula","family":"Knopp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kratz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,24]]},"reference":[{"issue":"4","key":"1966_CR1","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/nrendo.2017.166","volume":"14","author":"F Brioude","year":"2018","unstructured":"Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, de Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, le Bouc Y, Maas SM, Macdonald F, \u00d5unap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Sk\u00f3rka A, Tatton-Brown K, Tenorio J, Tortora C, Gr\u00f8nskov K, Netchine I, Hennekam RC, Prawitt D, T\u00fcmer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER (2018) Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol 14(4):229\u2013249","journal-title":"Nat Rev Endocrinol"},{"issue":"2","key":"1966_CR2","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/nrendo.2016.138","volume":"13","author":"EL Wakeling","year":"2017","unstructured":"Wakeling EL, Brioude F, Lokulo-Sodipe O, O\u2019Connell SM, Salem J, Bliek J et al (2017) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 13(2):105\u2013124","journal-title":"Nat Rev Endocrinol"},{"key":"1966_CR3","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.jpeds.2017.04.018","volume":"187","author":"R Meyer","year":"2017","unstructured":"Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T (2017) Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management. J Pediatr 187:206\u2013212 e1","journal-title":"J Pediatr"},{"issue":"7","key":"1966_CR4","doi-asserted-by":"publisher","first-page":"2436","DOI":"10.1210\/jc.2017-02152","volume":"103","author":"S Geoffron","year":"2018","unstructured":"Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Genevi\u00e8ve D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E (2018) Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell syndrome. J Clin Endocrinol Metab 103(7):2436\u20132446","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"1966_CR5","doi-asserted-by":"publisher","first-page":"1356","DOI":"10.1038\/gim.2017.53","volume":"19","author":"M Kagami","year":"2017","unstructured":"Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T (2017) Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med 19(12):1356\u20131366","journal-title":"Genet Med"},{"issue":"3","key":"1966_CR6","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1002\/humu.23382","volume":"39","author":"Z Tumer","year":"2018","unstructured":"Tumer Z, Lopez-Hernandez JA, Netchine I, Elbracht M, Gronskov K, Gede LB et al (2018) Structural and sequence variants in patients with Silver-Russell syndrome or similar features-curation of a disease database. Hum Mutat 39(3):345\u2013364","journal-title":"Hum Mutat"},{"key":"1966_CR7","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13148-016-0183-8","volume":"8","author":"S Russo","year":"2016","unstructured":"Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S et al (2016) A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin. Epigenetics. 8:23","journal-title":"Epigenetics."},{"issue":"24","key":"1966_CR8","doi-asserted-by":"publisher","first-page":"4724","DOI":"10.1093\/hmg\/ddp435","volume":"18","author":"S Azzi","year":"2009","unstructured":"Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, le Jule M, Heinrichs C, Cabrol S, Gicquel C, le Bouc Y, Netchine I (2009) Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 18(24):4724\u20134733","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1966_CR9","doi-asserted-by":"publisher","first-page":"R161","DOI":"10.1530\/REP-17-0465","volume":"154","author":"D Monk","year":"2017","unstructured":"Monk D, Sanchez-Delgado M, Fisher R (2017) NLRPs, the subcortical maternal complex and genomic imprinting. Reproduction. 154(6):R161\u2013RR70","journal-title":"Reproduction."},{"issue":"7","key":"1966_CR10","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jmedgenet-2017-105190","volume":"55","author":"M Begemann","year":"2018","unstructured":"Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, Gonz\u00e1lez Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG (2018) Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Genet 55(7):497\u2013504","journal-title":"J Med Genet"},{"issue":"5","key":"1966_CR11","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/sj.ejhg.5202001","volume":"16","author":"M Priolo","year":"2008","unstructured":"Priolo M, Sparago A, Mammi C, Cerrato F, Lagana C, Riccio A (2008) MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet 16(5):565\u2013571","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"1966_CR12","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1007\/s00109-014-1141-6","volume":"92","author":"T Eggermann","year":"2014","unstructured":"Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L (2014) Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J Mol Med (Berl) 92(7):769\u2013777","journal-title":"J Mol Med (Berl)"},{"key":"1966_CR13","doi-asserted-by":"publisher","first-page":"e3","DOI":"10.1017\/S001667231900003X","volume":"101","author":"DJG Mackay","year":"2019","unstructured":"Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S et al (2019) Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. Genet Res (Camb) 101:e3","journal-title":"Genet Res (Camb)"},{"issue":"11","key":"1966_CR14","doi-asserted-by":"publisher","first-page":"2252","DOI":"10.1002\/ajmg.a.61314","volume":"179","author":"I Spier","year":"2019","unstructured":"Spier I, Engels H, Stutte S, Reutter H, Bartels E, Matos Meder S, Begemann M, Mangold E, Eggermann T (2019) Male infant with paternal uniparental diploidy mosaicism and a 46,XX\/46,XY karyotype. Am J Med Genet A 179(11):2252\u20132256","journal-title":"Am J Med Genet A"},{"issue":"6","key":"1966_CR15","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1002\/mgg3.324","volume":"5","author":"T Eggermann","year":"2017","unstructured":"Eggermann T, Oehl-Jaschkowitz B, Dicks S, Thomas W, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K (2017) The maternal uniparental disomy of chromosome 6 (upd(6)mat) \u201cphenotype\u201d: result of placental trisomy 6 mosaicism? Mol Genet Genomic Med 5(6):668\u2013677","journal-title":"Mol Genet Genomic Med"},{"key":"1966_CR16","doi-asserted-by":"publisher","unstructured":"Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E (2020) Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting. J Med Genet. https:\/\/doi.org\/10.1136\/jmedgenet-2020-106868","DOI":"10.1136\/jmedgenet-2020-106868"},{"issue":"1","key":"1966_CR17","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/s13148-019-0629-x","volume":"11","author":"F Kraft","year":"2019","unstructured":"Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T (2019) Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation. Clin Epigenetics 11(1):30","journal-title":"Clin Epigenetics"},{"issue":"3","key":"1966_CR18","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1002\/ajmg.a.37492","volume":"170","author":"IA Carrera","year":"2016","unstructured":"Carrera IA, de Zaldivar MS, Martin R, Begemann M, Soellner L, Eggermann T (2016) Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. Am J Med Genet A 170(3):743\u2013749","journal-title":"Am J Med Genet A"},{"issue":"7","key":"1966_CR19","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","volume":"52","author":"S Azzi","year":"2015","unstructured":"Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD (2015) A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 52(7):446\u2013453","journal-title":"J Med Genet"},{"key":"1966_CR20","doi-asserted-by":"publisher","first-page":"955","DOI":"10.3389\/fgene.2019.00955","volume":"10","author":"M Crippa","year":"2019","unstructured":"Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P (2019) Molecular etiology disclosed by array CGH in patients with Silver-Russell syndrome or similar phenotypes. Front Genet 10:955","journal-title":"Front Genet"},{"issue":"3","key":"1966_CR21","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/s00439-013-1379-z","volume":"133","author":"B Baskin","year":"2014","unstructured":"Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R (2014) High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet 133(3):321\u2013330","journal-title":"Hum Genet"},{"issue":"4","key":"1966_CR22","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1002\/ajmg.c.31740","volume":"181","author":"KA Duffy","year":"2019","unstructured":"Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM (2019) Characterization of the Beckwith-Wiedemann spectrum: diagnosis and management. Am J Med Genet C: Semin Med Genet 181(4):693\u2013708","journal-title":"Am J Med Genet C: Semin Med Genet"},{"issue":"8","key":"1966_CR23","doi-asserted-by":"publisher","first-page":"1929","DOI":"10.1002\/ajmg.a.36045","volume":"161A","author":"JM Kalish","year":"2013","unstructured":"Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA (2013) Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 161A(8):1929\u20131939","journal-title":"Am J Med Genet A"},{"issue":"9","key":"1966_CR24","doi-asserted-by":"publisher","first-page":"2174","DOI":"10.1002\/ajmg.a.36049","volume":"161A","author":"RL Poole","year":"2013","unstructured":"Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E et al (2013) Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 161A(9):2174\u20132182","journal-title":"Am J Med Genet A"},{"issue":"12","key":"1966_CR25","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1038\/gim.2014.46","volume":"16","author":"T Maeda","year":"2014","unstructured":"Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H (2014) Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Genet Med. 16(12):903\u2013912","journal-title":"Genet Med."},{"key":"1966_CR26","doi-asserted-by":"publisher","first-page":"8086","DOI":"10.1038\/ncomms9086","volume":"6","author":"LE Docherty","year":"2015","unstructured":"Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER et al (2015) Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. Nat Commun 6:8086","journal-title":"Nat Commun"},{"key":"1966_CR27","doi-asserted-by":"crossref","unstructured":"Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J et al (2019) Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes. Mod Pathol","DOI":"10.1038\/s41379-019-0432-4"},{"issue":"7","key":"1966_CR28","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1038\/s41431-018-0141-3","volume":"26","author":"J Qian","year":"2018","unstructured":"Qian J, Nguyen NMP, Rezaei M, Huang B, Tao Y, Zhang X, Cheng Q, Yang HJ, Asangla A, Majewski J, Slim R (2018) Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles. Eur J Hum Genet 26(7):1007\u20131013","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"1966_CR29","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.rbmo.2015.03.011","volume":"31","author":"E Akoury","year":"2015","unstructured":"Akoury E, Gupta N, Bagga R, Brown S, Dery C, Kabra M et al (2015) Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. Reprod BioMed Online 31(1):120\u2013124","journal-title":"Reprod BioMed Online"},{"issue":"3","key":"1966_CR30","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1136\/jmedgenet-2017-104919","volume":"55","author":"S Heide","year":"2018","unstructured":"Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, van Maldergem L, Trifard V, Giabicani E, Siffroi JP, le Bouc Y, Netchine I, Brioude F (2018) Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. J Med Genet 55(3):205\u2013213","journal-title":"J Med Genet"},{"key":"1966_CR31","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13148-018-0454-7","volume":"10","author":"A Sparago","year":"2018","unstructured":"Sparago A, Cerrato F, Riccio A (2018) Is ZFP57 binding to H19\/IGF2:IG-DMR affected in Silver-Russell syndrome? Clin Epigenetics 10:23","journal-title":"Clin Epigenetics"},{"issue":"1","key":"1966_CR32","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1002\/ajmg.a.37964","volume":"173","author":"D Jurkiewicz","year":"2017","unstructured":"Jurkiewicz D, Kugaudo M, Skorka A, Smigiel R, Smyk M, Ciara E et al (2017) A novel IGF2\/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family. Am J Med Genet A 173(1):72\u201378","journal-title":"Am J Med Genet A"},{"issue":"10","key":"1966_CR33","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1038\/ejhg.2016.45","volume":"24","author":"K Eggermann","year":"2016","unstructured":"Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, T\u00fcmer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Gr\u00f8nskov K, Mackay DJG, Eggermann T (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet 24(10):1377\u20131387","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"1966_CR34","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1136\/jmedgenet-2013-101691","volume":"50","author":"F Brioude","year":"2013","unstructured":"Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M et al (2013) CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J Med Genet 50(12):823\u2013830","journal-title":"J Med Genet"},{"key":"1966_CR35","doi-asserted-by":"crossref","unstructured":"Lokulo-Sodipe O, Ballard L, Child J, Inskip HM, Byrne CD, Ishida M et al (2020) Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. J Med Genet","DOI":"10.1136\/jmedgenet-2019-106561"},{"issue":"11","key":"1966_CR36","doi-asserted-by":"publisher","first-page":"2122","DOI":"10.1093\/humrep\/dey286","volume":"33","author":"WJ Goedegebuure","year":"2018","unstructured":"Goedegebuure WJ, Smeets CCJ, Renes JS, de Rijke YB, Hokken-Koelega ACS (2018) Gonadal function and pubertal development in patients with Silver-Russell syndrome. Hum Reprod 33(11):2122\u20132130","journal-title":"Hum Reprod"},{"issue":"3","key":"1966_CR37","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1159\/000354658","volume":"80","author":"G Binder","year":"2013","unstructured":"Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R (2013) Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. Horm Res Paediatr 80(3):193\u2013200","journal-title":"Horm Res Paediatr"}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-020-01966-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00109-020-01966-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-020-01966-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,23]],"date-time":"2021-08-23T23:17:38Z","timestamp":1629760658000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00109-020-01966-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,24]]},"references-count":37,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["1966"],"URL":"https:\/\/doi.org\/10.1007\/s00109-020-01966-z","relation":{},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,24]]},"assertion":[{"value":"17 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 August 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflicts of interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the ethical committee of the Medical Faculty, RWTH Aachen University (EK303-18).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}