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KAT6B-Related Spectrum Disorders

MedGen UID:
893619
Concept ID:
CN239406
Disease or Syndrome

Recent clinical studies

Etiology

Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R
Mol Genet Genomic Med 2023 Dec;11(12):e2265. Epub 2023 Sep 1 doi: 10.1002/mgg3.2265. PMID: 37658610Free PMC Article
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA
Mol Genet Genomic Med 2021 Oct;9(10):e1809. Epub 2021 Sep 14 doi: 10.1002/mgg3.1809. PMID: 34519438Free PMC Article
Brea-Fernández A, Dacruz D, Eirís J, Barros F, Carracedo Á
Am J Med Genet A 2019 Feb;179(2):290-294. Epub 2018 Dec 20 doi: 10.1002/ajmg.a.60689. PMID: 30569622
Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z
Eur J Med Genet 2015 Oct;58(10):550-5. Epub 2015 Sep 11 doi: 10.1016/j.ejmg.2015.09.004. PMID: 26370006

Diagnosis

Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA
Mol Genet Genomic Med 2021 Oct;9(10):e1809. Epub 2021 Sep 14 doi: 10.1002/mgg3.1809. PMID: 34519438Free PMC Article
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M
Am J Med Genet A 2018 Feb;176(2):455-459. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38571. PMID: 29226580
Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
Clin Genet 2017 Feb;91(2):339-343. Epub 2016 Sep 29 doi: 10.1111/cge.12840. PMID: 27452416
Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z
Eur J Med Genet 2015 Oct;58(10):550-5. Epub 2015 Sep 11 doi: 10.1016/j.ejmg.2015.09.004. PMID: 26370006

Prognosis

Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R
Mol Genet Genomic Med 2023 Dec;11(12):e2265. Epub 2023 Sep 1 doi: 10.1002/mgg3.2265. PMID: 37658610Free PMC Article
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M
Am J Med Genet A 2018 Feb;176(2):455-459. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38571. PMID: 29226580

Clinical prediction guides

Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M
Am J Med Genet A 2018 Feb;176(2):455-459. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38571. PMID: 29226580
Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB
Am J Med Genet A 2017 Oct;173(10):2596-2604. Epub 2017 Jul 11 doi: 10.1002/ajmg.a.38355. PMID: 28696035

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