Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

M Horvers; A K Anttonen; A E Lehesjoki; E Morava; Saskia Wortmann; S Vermeer; B P van de Warrenburg; M A Willemsen

doi:10.1016/j.ejpn.2012.09.007

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

M Horvers
, A K Anttonen
, A E Lehesjoki
, E Morava
, Saskia Wortmann (Co-author)
, S Vermeer
, B P van de Warrenburg
, M A Willemsen

Research output: Contribution to journal › Original Article › peer-review

17 Citations (Web of Science)

Original language	English
Pages (from-to)	199-203
Journal	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume	17
Issue number	2
DOIs	https://doi.org/10.1016/j.ejpn.2012.09.007
Publication status	Published - 2013

Keywords

IMAGING FEATURES
GENE
CATARACT
PEDIGREE
MYOPATHY
5Q31

Access to Document

10.1016/j.ejpn.2012.09.007

Cite this

@article{d4469d95e1e34817ac69af5928d99f33,

title = "Marinesco-Sj{\"o}gren syndrome due to SIL1 mutations with a comment on the clinical phenotype.",

keywords = "IMAGING FEATURES, GENE, CATARACT, PEDIGREE, MYOPATHY, 5Q31",

author = "M Horvers and Anttonen, \{A K\} and Lehesjoki, \{A E\} and E Morava and Saskia Wortmann and S Vermeer and \{van de Warrenburg\}, \{B P\} and Willemsen, \{M A\}",

year = "2013",

doi = "10.1016/j.ejpn.2012.09.007",

language = "English",

volume = "17",

pages = "199--203",

journal = "EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY",

issn = "1090-3798",

publisher = "Elsevier ",

number = "2",

}

TY - JOUR

T1 - Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

AU - Horvers, M

AU - Anttonen, A K

AU - Lehesjoki, A E

AU - Morava, E

AU - Wortmann, Saskia

AU - Vermeer, S

AU - van de Warrenburg, B P

AU - Willemsen, M A

PY - 2013

Y1 - 2013

KW - IMAGING FEATURES

KW - GENE

KW - CATARACT

KW - PEDIGREE

KW - MYOPATHY

KW - 5Q31

U2 - 10.1016/j.ejpn.2012.09.007

DO - 10.1016/j.ejpn.2012.09.007

M3 - Original Article

C2 - 23062754

SN - 1090-3798

VL - 17

SP - 199

EP - 203

JO - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

JF - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

IS - 2

ER -