Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

INTRODUCTION: Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into t...

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Detalles Bibliográficos
Autores principales: McKie, Arthur B, Alsaedi, Atif, Vogt, Julie, Stuurman, Kyra E, Weiss, Marjan M, Shakeel, Hassan, Tee, Louise, Morgan, Neil V, Nikkels, Peter G J, van Haaften, Gijs, Park, Soo-Mi, van der Smagt, Jasper J, Bugiani, Marianna, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450/
https://www.ncbi.nlm.nih.gov/pubmed/25476234
http://dx.doi.org/10.1186/s40478-014-0148-0

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