B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy wi...

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Detalles Bibliográficos
Autores principales: Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T., Zhianabed, Narges, Willemsen, Marjolein H., Wissink-Lindhout, Willemijn M., Willemsen, Michèl A., de Brouwer, Arjan P. M., Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R., Abbaszadegan, Mohammad Reza, Lefeber, Dirk J., van Bokhoven, Hans
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740572/
https://www.ncbi.nlm.nih.gov/pubmed/29273094
http://dx.doi.org/10.1186/s13073-017-0505-2

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