Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases

Nwosu BU, Lee MM (2008) Evaluation of short and tall stature in children. Am Fam Physician 78:597–604

Barstow C, Rerucha C (2015) Evaluation of short and tall stature in children

Gregorova K, Plachy L, Dusatkova P, Maratova K, Neuman V, Kolouskova S, Snajderova M, Obermannova B, Drnkova L, Soucek O, Lebl J, Sumnik Z, Pruhova S (2024) Genetic testing of children with familial tall stature: is it worth doing? J Clin Endocrinol Metab. https://doi.org/10.1210/clinem/dgae067

Article  PubMed  Google Scholar 

Tatton-Brown K, Cole TR, Rahman N (1993) Sotos Syndrome

Loeys BL, Dietz HC (1993) Loeys-Dietz Syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al (eds) GeneReviews®. University of Washington, Seattle, pp 1993–2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1133/

Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B (2021) Loeys-Dietz Syndrome. pp 251–264

Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T, Collaboration CO, Mahamdallie S, Seal S, Ruark E, Rahman N (2017) Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am J Hum Genet 100:725–736. https://doi.org/10.1016/j.ajhg.2017.03.010

Article  PubMed  PubMed Central  CAS  Google Scholar 

de Albuquerque Albuquerque EV, de Assis Funari MF, de Souza Quedas EP, Kawahira RSH, Jallad RS, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Krepischi ACV, Kim CA, Arnhold IJP, de Lima Jorge AA (2020) Genetic investigation of patients with tall stature. Eur J Endocrinol 182:139–147. https://doi.org/10.1530/EJE-19-0785

Article  Google Scholar 

Maratova K, Zemkova D, Sedlak P, Pavlikova M, Amaratunga SA, Krasnicanova H, Soucek O, Sumnik Z (2023) A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents. Front Endocrinol (Lausanne) 14:1130580. https://doi.org/10.3389/fendo.2023.1130580

Article  PubMed  Google Scholar 

Blaha P (1985) Antropometric studies of the Czechoslovak population from 6 to 55 years. Central Staff of the Czechoslovak Spartakiade, Prague

Kobzová J, Vignerová J, Bláha P, Krejcovský L, Riedlová J (2004) The 6th nationwide anthropological survey of children and adolescents in the Czech Republic in 2001. Cent Eur J Public Health 12:126–130

PubMed  Google Scholar 

Prader A, Largo RH, Molinari L, Issler C (1989) Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl 52:1–125

PubMed  CAS  Google Scholar 

Blaha P (1990) Anthropometric studies of the Czech pre-school children from 3 to 7 years. Institute of Sports Medicine, Prague

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) 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 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Demal TJ, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir TS, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G (2022) Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype. Sci Rep 12:4489. https://doi.org/10.1038/s41598-022-08476-7

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gabriel LAR, Wang LW, Bader H, Ho JC, Majors AK, Hollyfield JG, Traboulsi EI, Apte SS (2012) ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Investigative Opthalmology & Visual Science 53:461. https://doi.org/10.1167/iovs.10-5955

Article  CAS  Google Scholar 

Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park J-H, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson Å, Carola Zillikens M, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga J-J, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Hua Zhao J, Nyholt DR, Pellikka N, Perola M, Perry JRB, Surakka I, Tammesoo M-L, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJC, Glorioso N, Haiqing S, Hartikainen A-L, Havulinna AS, Hicks AA, Hui J, Igl W, Illig T, Jula A, Kajantie E, Kilpeläinen TO, Koiranen M, Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki M-L, Marusic A, Maschio A, Meitinger T, Mulas A, Paré G, Parker AN, Peden JF, Petersmann A, Pichler I, Pietiläinen KH, Pouta A, Ridderstråle M, Rotter JI, Sambrook JG, Sanders AR, Oliver Schmidt C, Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JBJ, Aben KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren C, Kähönen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimäki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS, O’Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS, Stumvoll M, Tönjes A, Tuomilehto J, van Ommen G-J, Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Grönberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Mark Lathrop G, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Adrienne Cupples L, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes RB, Jarvelin M-R, Mooser V, Munroe PB, Ouwehand WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD, Völzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter DJ, O’Connell JR, Strachan DP, Wichmann H-E, Borecki IB, van Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJF, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM, Hirschhorn JN (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832–838. https://doi.org/10.1038/nature09410

Article  PubMed  PubMed Central  CAS  Google Scholar 

Comments (0)

No login
gif