Cargando…
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477002/ https://www.ncbi.nlm.nih.gov/pubmed/32888510 http://dx.doi.org/10.1016/j.ajhg.2020.08.004 |
| _version_ | 1783579805246029824 |
|---|---|
| author | Mechaussier, Sabrina Almoallem, Basamat Zeitz, Christina Van Schil, Kristof Jeddawi, Laila Van Dorpe, Jo Rey, Alfredo Dueñas Condroyer, Christel Pelle, Olivier Polak, Michel Boddaert, Nathalie Bahi-Buisson, Nadia Cavallin, Mara Bacquet, Jean-Louis Mouallem-Bézière, Alexandra Zambrowski, Olivia Sahel, José Alain Audo, Isabelle Kaplan, Josseline Rozet, Jean-Michel De Baere, Elfride Perrault, Isabelle |
| author_facet | Mechaussier, Sabrina Almoallem, Basamat Zeitz, Christina Van Schil, Kristof Jeddawi, Laila Van Dorpe, Jo Rey, Alfredo Dueñas Condroyer, Christel Pelle, Olivier Polak, Michel Boddaert, Nathalie Bahi-Buisson, Nadia Cavallin, Mara Bacquet, Jean-Louis Mouallem-Bézière, Alexandra Zambrowski, Olivia Sahel, José Alain Audo, Isabelle Kaplan, Josseline Rozet, Jean-Michel De Baere, Elfride Perrault, Isabelle |
| author_sort | Mechaussier, Sabrina |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7477002 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-74770022020-09-16 Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement Mechaussier, Sabrina Almoallem, Basamat Zeitz, Christina Van Schil, Kristof Jeddawi, Laila Van Dorpe, Jo Rey, Alfredo Dueñas Condroyer, Christel Pelle, Olivier Polak, Michel Boddaert, Nathalie Bahi-Buisson, Nadia Cavallin, Mara Bacquet, Jean-Louis Mouallem-Bézière, Alexandra Zambrowski, Olivia Sahel, José Alain Audo, Isabelle Kaplan, Josseline Rozet, Jean-Michel De Baere, Elfride Perrault, Isabelle Am J Hum Genet Correction Elsevier 2020-09-03 2020-09-03 /pmc/articles/PMC7477002/ /pubmed/32888510 http://dx.doi.org/10.1016/j.ajhg.2020.08.004 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Correction Mechaussier, Sabrina Almoallem, Basamat Zeitz, Christina Van Schil, Kristof Jeddawi, Laila Van Dorpe, Jo Rey, Alfredo Dueñas Condroyer, Christel Pelle, Olivier Polak, Michel Boddaert, Nathalie Bahi-Buisson, Nadia Cavallin, Mara Bacquet, Jean-Louis Mouallem-Bézière, Alexandra Zambrowski, Olivia Sahel, José Alain Audo, Isabelle Kaplan, Josseline Rozet, Jean-Michel De Baere, Elfride Perrault, Isabelle Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title | Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title_full | Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title_fullStr | Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title_full_unstemmed | Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title_short | Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
| title_sort | loss of function of rims2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement |
| topic | Correction |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477002/ https://www.ncbi.nlm.nih.gov/pubmed/32888510 http://dx.doi.org/10.1016/j.ajhg.2020.08.004 |
| work_keys_str_mv | AT mechaussiersabrina lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT almoallembasamat lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT zeitzchristina lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT vanschilkristof lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT jeddawilaila lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT vandorpejo lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT reyalfredoduenas lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT condroyerchristel lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT pelleolivier lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT polakmichel lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT boddaertnathalie lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT bahibuissonnadia lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT cavallinmara lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT bacquetjeanlouis lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT mouallembezierealexandra lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT zambrowskiolivia lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT saheljosealain lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT audoisabelle lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT kaplanjosseline lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT rozetjeanmichel lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT debaereelfride lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement AT perraultisabelle lossoffunctionofrims2causesasyndromiccongenitalconerodsynapticdiseasewithneurodevelopmentalandpancreaticinvolvement |