Nothing out of sequence? Think deletion!

[1] Chan Elayne M, 2005, Adv Neurol, V95, P47

[2] ERIKSON A, 1986, ACTA PAEDIATR SCAND, P1

[3] Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome [J]. HUMAN MUTATION, 2004, 23 (03) : 234 - 244

[4] Genetic diagnosis in Lafora disease - Genotype-phenotype correlations and diagnostic pitfalls [J]. NEUROLOGY, 2007, 68 (13) : 996 - 1001

[5] Moser H.W., 2001, the metabolic and molecular bases of inherited disease, V8, P3257, DOI [10.1036/ommbid.160, DOI 10.1036/OMMBID.160]

[6] Rett syndrome: Model of neurodevelopmental disorders [J]. JOURNAL OF CHILD NEUROLOGY, 2005, 20 (09) : 718 - 721

[7] Gross rearrangements in the MECP2 gene in three patients with Rett syndrome:: Implications for routine diagnosis of Rett syndrome [J]. HUMAN MUTATION, 2003, 22 (02) : 116 - 120

[1] Chan Elayne M, 2005, Adv Neurol, V95, P47

[2] ERIKSON A, 1986, ACTA PAEDIATR SCAND, P1

[3] Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome [J]. HUMAN MUTATION, 2004, 23 (03) : 234 - 244

[4] Genetic diagnosis in Lafora disease - Genotype-phenotype correlations and diagnostic pitfalls [J]. NEUROLOGY, 2007, 68 (13) : 996 - 1001

[5] Moser H.W., 2001, the metabolic and molecular bases of inherited disease, V8, P3257, DOI [10.1036/ommbid.160, DOI 10.1036/OMMBID.160]

[6] Rett syndrome: Model of neurodevelopmental disorders [J]. JOURNAL OF CHILD NEUROLOGY, 2005, 20 (09) : 718 - 721

[7] Gross rearrangements in the MECP2 gene in three patients with Rett syndrome:: Implications for routine diagnosis of Rett syndrome [J]. HUMAN MUTATION, 2003, 22 (02) : 116 - 120