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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Detaylı Bibliyografya
Yayımlandı:Genome Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740572/
https://ncbi.nlm.nih.gov/pubmed/29273094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0505-2
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