Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

A. Chaudhry, A. Noor, B. Degagne, K. Baker, L. A. Bok, A. F. Brady, D. Chitayat, B. H. Chung, C. Cytrynbaum, D. Dyment, I. Filges, B. Helm, H. T. Hutchison, L. J. B. Jeng, F. Laumonnier, C. R. Marshall, M. Menzel, S. Parkash, M. J. Parker, L. F. RaymondA. L. Rideout, W. Roberts, R. Rupps, I. Schanze, C. T. R. M. Schrander-Stumpel, M. D. Speevak, D. J. Stavropoulos, S. J. C. Stevens, E. R. A. Thomas, A. Toutain, S. Vergano, R. Weksberg, S. W. Scherer, J. B. Vincent, M. T. Carter

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)
Original languageEnglish
Pages (from-to)224-233
JournalClinical Genetics
Volume88
Issue number3
DOIs
Publication statusPublished - Sep 2015

Keywords

  • autism spectrum disorder
  • intellectual disability
  • phenotype
  • PTCHD1
  • X-linked

Cite this

Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., ... Carter, M. T. (2015). Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genetics, 88(3), 224-233. https://doi.org/10.1111/cge.12482