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Genetics Home Reference: White-Sutton syndrome

  • Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, & distinctive facial dysmorphism. Am J Med Genet A. 2017 May 7. doi: 10.1002/ajmg.a.38255. [Epub ahead of print]

  • Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I’m, Brunner HG, van der Burgt I am, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 2016 Mar 3;98(3):541-52. doi: 10.1016/j.ajhg.2016.02.004.

  • Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L. A novel de novo POGZ mutation in a patient with intellectual disability. J Hum Genet. 2016 Apr;61(4):357-9. doi: 10.1038/jhg.2015.156. Epub 2016 Jan 14.

  • White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0.

  • Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I’m, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. De novo POGZ mutations are associated with neurodevelopmental disorders & microcephaly. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455.

  • Source: ghr.nlm.nih.gov

    Updated: June 13, 2018 — 3:30 am

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