Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol-Church

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume167A
Issue number2
Pages (from-to)271-281
Number of pages11
ISSN1552-4825
DOIs
Publication statusPublished - Feb 2015
MoE publication typeA1 Journal article-refereed

Fields of Science

  • NOTCH3
  • lateral meningocele syndrome
  • Lehman syndrome
  • Hajdu-Cheney syndrome
  • PEST domain
  • dural ectasia
  • HAJDU-CHENEY-SYNDROME
  • SYNDROME DIFFERENT DISORDERS
  • DNA-SEQUENCING DATA
  • OVERLAPPING PHENOTYPES
  • OSTEOSCLEROSIS
  • FRAMEWORK
  • FEATURES
  • CADASIL
  • GENES
  • 3111 Biomedicine

Cite this

Gripp, K. W., Robbins, K. M., Sobreira, N. L., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K. F., Stabley, D. L., & Sol-Church, K. (2015). Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome. American Journal of Medical Genetics. Part A, 167A(2), 271-281. https://doi.org/10.1002/ajmg.a.36863