A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene

Martin-Probst syndrome (MPS) is an X-linked multisystem neurodevelopmental disorder, reported to be caused by the p.D59G mutation in RAB40AL. Whereas evidence against the pathogenic role of p.D59G has been published, the presence of RAB40AL p.D59G continues to be used as a support for MPS diagnosis....

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Detalles Bibliográficos
Autores principales: Ołdak, Monika, Ruszkowska, Ewelina, Pollak, Agnieszka, Sobczyk-Kopcioł, Agnieszka, Kowalewski, Cezary, Piwońska, Aleksandra, Drygas, Wojciech, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544553/
https://www.ncbi.nlm.nih.gov/pubmed/25370018
http://dx.doi.org/10.1007/s00431-014-2452-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544553/
https://www.ncbi.nlm.nih.gov/pubmed/25370018
http://dx.doi.org/10.1007/s00431-014-2452-x

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