TY  - GEN
AU  - Voutoufianakis,S
AU  - Psoni,S
AU  - Vorgia,P
AU  - Tsekoura,F
AU  - Kekou,K
AU  - Traeger-Synodinos,J
AU  - Kitsiou,S
AU  - Kanavakis,E
AU  - Fryssira,H
TI  - Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome
SN  - 1090-3798
PY  - 2007///0905
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Cyclic AMP Response Element-Binding Protein
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Methyl-CpG-Binding Protein 2
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Restriction Fragment Length
KW  - RNA-Binding Proteins
KW  - Rett Syndrome
KW  - complications
KW  - SMN Complex Proteins
KW  - Spinal Muscular Atrophies of Childhood
KW  - Survival of Motor Neuron 1 Protein
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejpn.2006.12.007
ER  -