A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing.

Detalles Bibliográficos
Autores principales: Otter, Maarten, Wevers, Marijke, Pisters, Marline, Pfundt, Rolph, Vos, Yvonne, Nievelstein, Rutger Jan, Stumpel, Constance
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538050/
https://www.ncbi.nlm.nih.gov/pubmed/28781826
http://dx.doi.org/10.1002/ccr3.1038
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author Otter, Maarten
Wevers, Marijke
Pisters, Marline
Pfundt, Rolph
Vos, Yvonne
Nievelstein, Rutger Jan
Stumpel, Constance
author_facet Otter, Maarten
Wevers, Marijke
Pisters, Marline
Pfundt, Rolph
Vos, Yvonne
Nievelstein, Rutger Jan
Stumpel, Constance
author_sort Otter, Maarten
collection PubMed
description Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing.
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spelling pubmed-55380502017-08-04 A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report Otter, Maarten Wevers, Marijke Pisters, Marline Pfundt, Rolph Vos, Yvonne Nievelstein, Rutger Jan Stumpel, Constance Clin Case Rep Case Reports Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing. John Wiley and Sons Inc. 2017-06-15 /pmc/articles/PMC5538050/ /pubmed/28781826 http://dx.doi.org/10.1002/ccr3.1038 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Otter, Maarten
Wevers, Marijke
Pisters, Marline
Pfundt, Rolph
Vos, Yvonne
Nievelstein, Rutger Jan
Stumpel, Constance
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title_full A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title_fullStr A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title_full_unstemmed A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title_short A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
title_sort novel mutation in l1cam causes a mild form of l1 syndrome: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538050/
https://www.ncbi.nlm.nih.gov/pubmed/28781826
http://dx.doi.org/10.1002/ccr3.1038
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