ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate E. Chandler, Neil A. Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C. Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T. Ma, Ruth McGowan, Maryse Des Medt, James O’Sullivan, Sylvie Odent, Michael J. Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah R. Zahir, Adrian S. Woolf, Siddharth Banka

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DOI: 10.1016/j.ajhg.2017.11.006
Published: 2017-12
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2017.11.006,
  title = {ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder},
  author = {Sara Cuvertino and Helen M. Stuart and Kate E. Chandler and Neil A. Roberts and Ruth Armstrong and Laura Bernardini and Sanjeev Bhaskar and Bert Callewaert and Jill Clayton-Smith and Cristina Hernando Davalillo and Charu Deshpande and Koenraad Devriendt and Maria C. Digilio and Abhijit Dixit and Matthew Edwards and Jan M. Friedman and Antonio Gonzalez-Meneses and Shelagh Joss and Bronwyn Kerr and Anne Katrin Lampe and Sylvie Langlois and Rachel Lennon and Philippe Loget and David Y.T. Ma and Ruth McGowan and Maryse Des Medt and James O’Sullivan and Sylvie Odent and Michael J. Parker and Céline Pebrel-Richard and Florence Petit and Zornitza Stark and Sylvia Stockler-Ipsiroglu and Sigrid Tinschert and Pradeep Vasudevan and Olaya Villa and Susan M. White and Farah R. Zahir and Adrian S. Woolf and Siddharth Banka},
  year = {2017},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2017.11.006},
  url = {https://doi.org/10.1016/j.ajhg.2017.11.006}
}

RIS

TY  - JOUR
TI  - ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
AU  - Sara Cuvertino
AU  - Helen M. Stuart
AU  - Kate E. Chandler
AU  - Neil A. Roberts
AU  - Ruth Armstrong
AU  - Laura Bernardini
AU  - Sanjeev Bhaskar
AU  - Bert Callewaert
AU  - Jill Clayton-Smith
AU  - Cristina Hernando Davalillo
AU  - Charu Deshpande
AU  - Koenraad Devriendt
AU  - Maria C. Digilio
AU  - Abhijit Dixit
AU  - Matthew Edwards
AU  - Jan M. Friedman
AU  - Antonio Gonzalez-Meneses
AU  - Shelagh Joss
AU  - Bronwyn Kerr
AU  - Anne Katrin Lampe
AU  - Sylvie Langlois
AU  - Rachel Lennon
AU  - Philippe Loget
AU  - David Y.T. Ma
AU  - Ruth McGowan
AU  - Maryse Des Medt
AU  - James O’Sullivan
AU  - Sylvie Odent
AU  - Michael J. Parker
AU  - Céline Pebrel-Richard
AU  - Florence Petit
AU  - Zornitza Stark
AU  - Sylvia Stockler-Ipsiroglu
AU  - Sigrid Tinschert
AU  - Pradeep Vasudevan
AU  - Olaya Villa
AU  - Susan M. White
AU  - Farah R. Zahir
AU  - Adrian S. Woolf
AU  - Siddharth Banka
PY  - 2017
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2017.11.006
UR  - https://doi.org/10.1016/j.ajhg.2017.11.006
ER  -

APA

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K., Langlois, S., Lennon, R., Loget, P., Ma, D. Y., McGowan, R., Medt, M. D., O’Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., & Banka, S. (2017). ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.11.006

Source records

crossref · retrieved 2026-09-26T10:33:34.310Z