Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
about
Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case reportA novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
P2860
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Rett-like onset in late-infant ...... data on clinical onset signs.
@ast
Rett-like onset in late-infant ...... data on clinical onset signs.
@en
type
label
Rett-like onset in late-infant ...... data on clinical onset signs.
@ast
Rett-like onset in late-infant ...... data on clinical onset signs.
@en
prefLabel
Rett-like onset in late-infant ...... data on clinical onset signs.
@ast
Rett-like onset in late-infant ...... data on clinical onset signs.
@en
P2093
P1476
Rett-like onset in late-infant ...... data on clinical onset signs.
@en
P2093
Alexandra Eugenia Bastian
Alice Dica
Arndt Rolfs
Catrinel Iliescu
Dana Craiu
Dorota Hoffman-Zacharska
Mihaela Gherghiceanu
Mihai Craiu
Monika Gos
Nahid Nahavandi
P356
10.1016/J.EJPN.2014.07.008
P577
2014-08-07T00:00:00Z