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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Pediatr
Egile Nagusiak: Ołdak, Monika, Ruszkowska, Ewelina, Pollak, Agnieszka, Sobczyk-Kopcioł, Agnieszka, Kowalewski, Cezary, Piwońska, Aleksandra, Drygas, Wojciech, Płoski, Rafał
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2014
Gaiak:
Short Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4544553/
https://ncbi.nlm.nih.gov/pubmed/25370018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-014-2452-x
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