Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A

Open source

DOI
10.1186/s13229-018-0205-9
Published
2018
Container
Molecular autism
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1186/s13229-018-0205-9,
  title = {Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.},
  author = {De Rubeis S and Siper PM and Durkin A and Weissman J and Muratet F and Halpern D and Trelles MDP and Frank Y and Lozano R and Wang AT and Holder JL Jr and Betancur C and Buxbaum JD and Kolevzon A},
  year = {2018},
  journal = {Molecular autism},
  doi = {10.1186/s13229-018-0205-9},
  url = {https://doi.org/10.1186/s13229-018-0205-9}
}

RIS

TY  - JOUR
TI  - Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
AU  - De Rubeis S
AU  - Siper PM
AU  - Durkin A
AU  - Weissman J
AU  - Muratet F
AU  - Halpern D
AU  - Trelles MDP
AU  - Frank Y
AU  - Lozano R
AU  - Wang AT
AU  - Holder JL Jr
AU  - Betancur C
AU  - Buxbaum JD
AU  - Kolevzon A
PY  - 2018
JO  - Molecular autism
DO  - 10.1186/s13229-018-0205-9
UR  - https://doi.org/10.1186/s13229-018-0205-9
ER  - 

APA

S, D. R., PM, S., A, D., J, W., F, M., D, H., MDP, T., Y, F., R, L., AT, W., Jr, H. J., C, B., JD, B., & A, K. (2018). Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.. Molecular autism. https://doi.org/10.1186/s13229-018-0205-9

Source records