Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Molecular Cytogenetics

Volumn 3, Issue 1, 2010, Pages

  Aktas, Dilek ^a   Utine, Eda G ^a   Mrasek, Kristin ^b   Weise, Anja ^b   Von Eggeling, Ferdinand ^b   Yalaz, Kalbiye ^a   Posorski, Nicole ^b   Akarsu, Nurten ^a   Alikasifoglu, Mehmet ^a   Liehr, Thomas ^b   Tuncbilek, Ergul ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CHROMOSOME 1; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; EPILEPSY; FACE DYSMORPHIA; FEMALE; GENE; GLUT1 DEFICIENCY SYNDROME; GLUT1 GENE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SEIZURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SMYD3 GENE; SPEECH DISORDER; ZNF672 GENE;

EID: 77952683141     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-3-10     Document Type: Article

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