Rare SUZ12 variants commonly cause an overgrowth phenotype

CAUSES Study, Sharri S. Cyrus, Ana S. A. Cohen, Kristiina Avela, William T. Gibson

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican journal of medical genetics. Part C, Seminars in medical genetics
Volume181
Issue number4
Pages (from-to)532-547
Number of pages16
ISSN1552-4868
DOIs
Publication statusPublished - Dec 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Cohen-Gibson syndrome
  • Polycomb repressive complex 2
  • SUZ12
  • SUZ12-related overgrowth
  • Weaver syndrome
  • REPRESSIVE COMPLEX 2
  • NONALLELIC HOMOLOGOUS RECOMBINATION
  • EED-ASSOCIATED OVERGROWTH
  • HISTONE METHYLTRANSFERASE
  • WEAVER SYNDROME
  • MUTATIONS
  • GENE
  • PRC2
  • INACTIVATION
  • GENOTYPE
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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