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Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review

  • Published:2020-07-20 Issue:4 Volume:37 Page:1339-1343
  • ISSN:0256-7040
  • Container-title:Child's Nervous System
  • language:en
  • Short-container-title:Childs Nerv Syst

Author:

Muroi AiORCID,Enokizono Takashi,Tsurubuchi Takao,Tsukada Kazuaki,Ohto Tatsuyuki,Ishikawa Eiichi

Funder

Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Aby J, Kim JL (2018) A cross-sectional assessment of cutaneous lumbosacral and coccygeal physical examination findings in a healthy newborn population. Glob Pediatr Health 5:1–8. https://doi.org/10.1177/2333794X18756133

2. Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board (2019) Kabuki syndrome: international consensus diagnostic criteria. J Med Genet 56(2):89–95. https://doi.org/10.1136/jmedgenet-2018-105625

3. Agger K, Cloos PAC, Christensen J, Pasini D, Rose S, Rappsilber J, Issaeva I, Canaani E, Salcini AE, Helin K (2007) UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature 449(7163):731–734. https://doi.org/10.1038/nature06145

4. Alatas I, Canaz H, Akkoyun N, Er A, Demirhan O, Kizilay D, Emel E (2015) Neural tube defects in Jarcho-Levin syndrome: study of twenty-eight cases. Pediatr Neurosurg 50(2):57–62. https://doi.org/10.1159/000380770

5. Armstrong L, Moneim AAE, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE (2004) Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 132A(3):265–272. https://doi.org/10.1002/ajmg.a.30340

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