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Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome.
Clin Genet. 2014 Jul;86(1):74-84. doi: 10.1111/cge.12230. Epub 2013 Jul 30.
Clin Genet. 2014.
PMID: 23829326
Marinesco-Sjogren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. ...
Marinesco-Sjogren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar …
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M.
Anheim M, et al.
Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
Neurogenetics. 2010.
PMID: 19440741
A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjogren syndrome, two …
A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AO …
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