Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Jan;161A(1):225-7.
doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13.

Weaver syndrome and defective cortical development: a rare association

Affiliations
Case Reports

Weaver syndrome and defective cortical development: a rare association

Ahmed Al-Salem et al. Am J Med Genet A. 2013 Jan.
No abstract available

PubMed Disclaimer

Similar articles

  • A novel mutation in EED associated with overgrowth.
    Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. Cohen AS, et al. J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19. J Hum Genet. 2015. PMID: 25787343
  • Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
    Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Smigiel R, et al. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410511 Review.
  • Novel SUZ12 mutations in Weaver-like syndrome.
    Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N. Imagawa E, et al. Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6. Clin Genet. 2018. PMID: 30019515
  • Novel EED mutation in patient with Weaver syndrome.
    Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L. Cooney E, et al. Am J Med Genet A. 2017 Feb;173(2):541-545. doi: 10.1002/ajmg.a.38055. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868325
  • Overgrowth syndromes.
    Neylon OM, Werther GA, Sabin MA. Neylon OM, et al. Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. Curr Opin Pediatr. 2012. PMID: 22705997 Review.

Cited by

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources