{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:43:46Z","timestamp":1787579026879,"version":"build-2736575974"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National Key Research and Development Program of China","award":["2023YFC2706300"],"award-info":[{"award-number":["2023YFC2706300"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Meier\u2013Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The medical history data of a young girl were collected and reviewed. Whole-exome sequencing (WES) and bioinformatic analysis were performed to identify any variants and predict their pathogenicity. Minigene constructs were generated and transfected into HEK-293T cells for in vitro splicing assays. The literature was reviewed to explore the mutational spectrum and efficacy of GH treatment for this disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A girl with microtia, hypoplastic patellae, and severe growth retardation carried a novel homozygous intronic variant (NM_030928.4: exon 3: c.352\u201330\u00a0A\u2009&gt;\u2009C) in <jats:italic>CDT1<\/jats:italic>. The variant was predicted to break a branch point and alter splicing, and the minigene assay confirmed abnormal splicing with exon 3 skipping. The patient was treated with GH for 5 years, with an increase in growth velocity from 4.0\u00a0cm\/year to an average of 6.2\u00a0cm\/year. A literature review revealed that the most common variant type and inheritance state were missense and compound heterozygous, respectively. Additionally, the vast majority of children with MGORS treated with GH had normal insulin-like growth factor 1 (IGF-1) levels, and half of them responded positively to GH therapy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We reported a novel pathogenic homozygous intronic variant (c.352\u201330\u00a0A\u2009&gt;\u2009C) of <jats:italic>CDT1<\/jats:italic> in a girl with MGORS, and this mutation extended the genetic spectrum of the disease. GH therapy may be beneficial for height outcomes in children with MGORS with normal IGF-1 levels.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03430-4","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T10:59:39Z","timestamp":1736420379000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel homozygous intronic variant in CDT1 that alters splicing causes Meier\u2013Gorlin syndrome, and a review of published mutations and growth hormone treatments"],"prefix":"10.1186","volume":"19","author":[{"given":"Qing","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yichi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fucheng","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuxi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,18]]},"reference":[{"key":"3430_CR1","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1186\/s13023-015-0322-x","volume":"10","author":"SA de Munnik","year":"2015","unstructured":"de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015;10:114. https:\/\/doi.org\/10.1186\/s13023-015-0322-x.","journal-title":"Orphanet J Rare Dis"},{"key":"3430_CR2","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1038\/ejhg.2011.269","volume":"20","author":"SA de Munnik","year":"2012","unstructured":"de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20:598\u2013606. https:\/\/doi.org\/10.1038\/ejhg.2011.269.","journal-title":"Eur J Hum Genet"},{"key":"3430_CR3","doi-asserted-by":"publisher","first-page":"2733","DOI":"10.1002\/ajmg.a.35681","volume":"158A","author":"SA de Munnik","year":"2012","unstructured":"de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, et al. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012;158A:2733\u201342. https:\/\/doi.org\/10.1002\/ajmg.a.35681.","journal-title":"Am J Med Genet A"},{"key":"3430_CR4","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1016\/j.radcr.2022.02.028","volume":"17","author":"R Vakili","year":"2022","unstructured":"Vakili R, Mobini M, Hatami F, Vakili S, Valizadeh N. Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: six years follow-up of a rare case. Radiol Case Rep. 2022;17:1512\u201320. https:\/\/doi.org\/10.1016\/j.radcr.2022.02.028.","journal-title":"Radiol Case Rep"},{"key":"3430_CR5","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ajmg.1452","volume":"102","author":"EM Bongers","year":"2001","unstructured":"Bongers EM, Fryer JMOA, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet. 2001;102:115\u201324.","journal-title":"Am J Med Genet"},{"key":"3430_CR6","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1016\/j.ajhg.2015.11.006","volume":"97","author":"LC Burrage","year":"2015","unstructured":"Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, et al. De Novo GMNN mutations cause autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015;97:904\u201313. https:\/\/doi.org\/10.1016\/j.ajhg.2015.11.006.","journal-title":"Am J Hum Genet"},{"key":"3430_CR7","doi-asserted-by":"publisher","first-page":"68","DOI":"10.3760\/cma.j.issn.1003-9406.2017.01.016","volume":"34","author":"J Li","year":"2017","unstructured":"Li J, Ding Y, Chang G, Cheng Q, Li X, Wang J, Wang X, Shen Y. A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:68\u201372. https:\/\/doi.org\/10.3760\/cma.j.issn.1003-9406.2017.01.016.","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"3430_CR8","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1038\/ejhg.2017.5","volume":"25","author":"A Vetro","year":"2017","unstructured":"Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, et al. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. Eur J Hum Genet. 2017;25:646\u201350. https:\/\/doi.org\/10.1038\/ejhg.2017.5.","journal-title":"Eur J Hum Genet"},{"key":"3430_CR9","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1136\/jmedgenet-2020-107572","volume":"59","author":"MJ Nabais Sa","year":"2022","unstructured":"Nabais Sa MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J. Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. J Med Genet. 2022;59:776\u201380. https:\/\/doi.org\/10.1136\/jmedgenet-2020-107572.","journal-title":"J Med Genet"},{"key":"3430_CR10","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/ng.775","volume":"43","author":"LS Bicknell","year":"2011","unstructured":"Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356\u20139. https:\/\/doi.org\/10.1038\/ng.775.","journal-title":"Nat Genet"},{"key":"3430_CR11","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1038\/s41431-023-01359-z","volume":"31","author":"E Nielsen-Dandoroff","year":"2023","unstructured":"Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. Eur J Hum Genet. 2023;31:859\u201368. https:\/\/doi.org\/10.1038\/s41431-023-01359-z.","journal-title":"Eur J Hum Genet"},{"key":"3430_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2147\/TACG.S342804","volume":"15","author":"V Zabnenkova","year":"2022","unstructured":"Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O. Novel compound heterozygous variants in the CDC6 gene in a Russian patient with Meier-Gorlin Syndrome. Appl Clin Genet. 2022;15:1\u201310. https:\/\/doi.org\/10.2147\/TACG.S342804.","journal-title":"Appl Clin Genet"},{"key":"3430_CR13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s13073-022-01087-x","volume":"14","author":"AJM Blakes","year":"2022","unstructured":"Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, et al. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 genomes Project. Genome Med. 2022;14:79. https:\/\/doi.org\/10.1186\/s13073-022-01087-x.","journal-title":"Genome Med"},{"key":"3430_CR14","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","volume":"59","author":"A Anna","year":"2018","unstructured":"Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet. 2018;59:253\u201368. https:\/\/doi.org\/10.1007\/s13353-018-0444-7.","journal-title":"J Appl Genet"},{"key":"3430_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"key":"3430_CR16","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1126\/science.1261877","volume":"348","author":"MA Rivas","year":"2015","unstructured":"Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, et al. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015;348:666\u20139. https:\/\/doi.org\/10.1126\/science.1261877.","journal-title":"Science"},{"key":"3430_CR17","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1007\/s00439-017-1809-4","volume":"136","author":"R Vaz-Drago","year":"2017","unstructured":"Vaz-Drago R, Custodio N, Carmo-Fonseca M. Deep intronic mutations and human disease. Hum Genet. 2017;136:1093\u2013111. https:\/\/doi.org\/10.1007\/s00439-017-1809-4.","journal-title":"Hum Genet"},{"key":"3430_CR18","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1101\/gr.238444.118","volume":"29","author":"J Lord","year":"2019","unstructured":"Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, et al. Pathogenicity and selective constraint on variation near splice sites. Genome Res. 2019;29:159\u201370. https:\/\/doi.org\/10.1101\/gr.238444.118.","journal-title":"Genome Res"},{"key":"3430_CR19","doi-asserted-by":"publisher","first-page":"e2211194119","DOI":"10.1073\/pnas.2211194119","volume":"119","author":"P Zhang","year":"2022","unstructured":"Zhang P, Philippot Q, Ren W, Lei WT, Li J, Stenson PD, Palacin PS, Colobran R, Boisson B, Zhang SY, et al. Genome-wide detection of human variants that disrupt intronic branchpoints. Proc Natl Acad Sci U S A. 2022;119:e2211194119. https:\/\/doi.org\/10.1073\/pnas.2211194119.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"3430_CR20","first-page":"493","volume":"47","author":"H Li","year":"2009","unstructured":"Li H, Ji CY, Zong XN, Zhang YQ. [Body mass index growth curves for Chinese children and adolescents aged 0 to 18 years]. Zhonghua Er Ke Za Zhi. 2009;47:493\u20138.","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"3430_CR21","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1136\/adc.45.244.755","volume":"45","author":"JM Tanner","year":"1970","unstructured":"Tanner JM, Goldstein H, Whitehouse RH. Standards for children\u2019s height at ages 2\u20139 years allowing for heights of parents. Arch Dis Child. 1970;45:755\u201362. https:\/\/doi.org\/10.1136\/adc.45.244.755.","journal-title":"Arch Dis Child"},{"key":"3430_CR22","doi-asserted-by":"publisher","first-page":"5","DOI":"10.3760\/cma.j.cn112140-20230914-00183","volume":"62","author":"[Chinese guidelines for the diagnosis and treatment of pediatric growth hormone deficiency]","year":"2024","unstructured":"[Chinese guidelines for the diagnosis and treatment of pediatric growth hormone deficiency]. Zhonghua Er Ke Za Zhi. 2024;62:5\u201311. https:\/\/doi.org\/10.3760\/cma.j.cn112140-20230914-00183.","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"3430_CR23","doi-asserted-by":"publisher","first-page":"790194","DOI":"10.3389\/fped.2021.790194","volume":"9","author":"S Guo","year":"2021","unstructured":"Guo S, Wu S, Li Z, Huang L, Zhan D, Zhang C, Luo X. Clinical and functional characterization of a Novel mutation in AVPR2 causing nephrogenic diabetes insipidus in a four-Generation Chinese Family. Front Pediatr. 2021;9:790194. https:\/\/doi.org\/10.3389\/fped.2021.790194.","journal-title":"Front Pediatr"},{"key":"3430_CR24","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, et al. Predicting Splicing from primary sequence with deep learning. Cell. 2019;176:535\u2013e548524. https:\/\/doi.org\/10.1016\/j.cell.2018.12.015.","journal-title":"Cell"},{"key":"3430_CR25","doi-asserted-by":"publisher","first-page":"13534","DOI":"10.1093\/nar\/gku1206","volume":"42","author":"X Jian","year":"2014","unstructured":"Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 2014;42:13534\u201344. https:\/\/doi.org\/10.1093\/nar\/gku1206.","journal-title":"Nucleic Acids Res"},{"key":"3430_CR26","doi-asserted-by":"publisher","first-page":"e1008988","DOI":"10.1371\/journal.pgen.1008988","volume":"16","author":"Y Zhou","year":"2020","unstructured":"Zhou Y, Pozo PN, Oh S, Stone HM, Cook JG. Distinct and sequential re-replication barriers ensure precise genome duplication. PLoS Genet. 2020;16:e1008988. https:\/\/doi.org\/10.1371\/journal.pgen.1008988.","journal-title":"PLoS Genet"},{"key":"3430_CR27","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1038\/s41436-020-0782-9","volume":"22","author":"D Del Gaudio","year":"2020","unstructured":"Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:1133\u201341. https:\/\/doi.org\/10.1038\/s41436-020-0782-9.","journal-title":"Genet Med"},{"key":"3430_CR28","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1002\/mgg3.285","volume":"5","author":"DM Bis","year":"2017","unstructured":"Bis DM, Sch\u00fcle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Sch\u00f6ls L, Z\u00fcchner S. Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med. 2017;5:280\u20136. https:\/\/doi.org\/10.1002\/mgg3.285.","journal-title":"Mol Genet Genomic Med"},{"key":"3430_CR29","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.molcel.2022.11.019","volume":"83","author":"G Rona","year":"2023","unstructured":"Rona G, Pagano M. CDT1, a licensing factor that limits rereplication. Mol Cell. 2023;83:1\u20133. https:\/\/doi.org\/10.1016\/j.molcel.2022.11.019.","journal-title":"Mol Cell"},{"key":"3430_CR30","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.molcel.2022.12.004","volume":"83","author":"N Ratnayeke","year":"2023","unstructured":"Ratnayeke N, Baris Y, Chung M, Yeeles JTP, Meyer T. CDT1 inhibits CMG helicase in early S phase to separate origin licensing from DNA synthesis. Mol Cell. 2023;83:26\u2013e4213. https:\/\/doi.org\/10.1016\/j.molcel.2022.12.004.","journal-title":"Mol Cell"},{"key":"3430_CR31","doi-asserted-by":"publisher","first-page":"e13377","DOI":"10.1111\/cpr.13377","volume":"56","author":"C Li","year":"2023","unstructured":"Li C, Tan YP, Ma XS, Wang ZB, Meng TG, Sun QY. CDT1 is the major functional regulatory subunit of the pre-replication complex in zygotes. Cell Prolif. 2023;56:e13377. https:\/\/doi.org\/10.1111\/cpr.13377.","journal-title":"Cell Prolif"},{"key":"3430_CR32","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/1747-1028-1-22","volume":"1","author":"M Fujita","year":"2006","unstructured":"Fujita M. Cdt1 revisited: complex and tight regulation during the cell cycle and consequences of deregulation in mammalian cells. Cell Div. 2006;1:22. https:\/\/doi.org\/10.1186\/1747-1028-1-22.","journal-title":"Cell Div"},{"key":"3430_CR33","doi-asserted-by":"publisher","first-page":"2989","DOI":"10.1091\/mbc.E18-04-0242","volume":"29","author":"PN Pozo","year":"2018","unstructured":"Pozo PN, Matson JP, Cole Y, Kedziora KM, Grant GD, Temple B, Cook JG. Cdt1 variants reveal unanticipated aspects of interactions with cyclin\/CDK and MCM important for normal genome replication. Mol Biol Cell. 2018;29:2989\u20133002. https:\/\/doi.org\/10.1091\/mbc.E18-04-0242.","journal-title":"Mol Biol Cell"},{"key":"3430_CR34","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1038\/gim.2014.154","volume":"17","author":"KD Farwell","year":"2015","unstructured":"Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578\u201386. https:\/\/doi.org\/10.1038\/gim.2014.154.","journal-title":"Genet Med"},{"key":"3430_CR35","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1002\/ajmg.a.62016","volume":"185","author":"KM Knapp","year":"2021","unstructured":"Knapp KM, Murray J, Temple IK, Bicknell LS. Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. Am J Med Genet A. 2021;185:871\u20136. https:\/\/doi.org\/10.1002\/ajmg.a.62016.","journal-title":"Am J Med Genet A"},{"key":"3430_CR36","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.ajhg.2016.05.019","volume":"99","author":"AL Fenwick","year":"2016","unstructured":"Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, et al. Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016;99:125\u201338. https:\/\/doi.org\/10.1016\/j.ajhg.2016.05.019.","journal-title":"Am J Hum Genet"},{"key":"3430_CR37","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1136\/jmedgenet-2019-106396","volume":"57","author":"KM Knapp","year":"2020","unstructured":"Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D\u2019Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, et al. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet. 2020;57:195\u2013202. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106396.","journal-title":"J Med Genet"},{"key":"3430_CR38","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/j.ajhg.2017.04.003","volume":"100","author":"KM Boycott","year":"2017","unstructured":"Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, et al. International Cooperation to enable the diagnosis of all Rare Genetic diseases. Am J Hum Genet. 2017;100:695\u2013705. https:\/\/doi.org\/10.1016\/j.ajhg.2017.04.003.","journal-title":"Am J Hum Genet"},{"key":"3430_CR39","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1038\/nature07509","volume":"456","author":"ET Wang","year":"2008","unstructured":"Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB. Alternative isoform regulation in human tissue transcriptomes. Nature. 2008;456:470\u20136. https:\/\/doi.org\/10.1038\/nature07509.","journal-title":"Nature"},{"key":"3430_CR40","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1038\/nsmb.2327","volume":"19","author":"AJ Taggart","year":"2012","unstructured":"Taggart AJ, DeSimone AM, Shih JS, Filloux ME, Fairbrother WG. Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo. Nat Struct Mol Biol. 2012;19:719\u201321. https:\/\/doi.org\/10.1038\/nsmb.2327.","journal-title":"Nat Struct Mol Biol"},{"key":"3430_CR41","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1471-2431-8-8","volume":"8","author":"A Niklasson","year":"2008","unstructured":"Niklasson A, Albertsson-Wikland K. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr. 2008;8:8. https:\/\/doi.org\/10.1186\/1471-2431-8-8.","journal-title":"BMC Pediatr"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03430-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03430-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03430-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T10:59:44Z","timestamp":1736420384000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03430-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,18]]},"references-count":41,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3430"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03430-4","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,18]]},"assertion":[{"value":"6 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The Ethics Committee of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology (TJ-IRB20201016) approved this study. Written informed consent (including patient photographs) was obtained from the parents of this patient.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The parents of this patient have been informed of the publication and have signed consent for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors indicate that there are no competing interests to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"465"}}