Disruption of the TCF4 Gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2053-2059

  Kaischeuer, Vera M ^a   Feenstra, Ilse ^b   Van Ravenswaaij Arts, Conny M A ^c   Smeets, Dominique F C M ^b   Menzel, Corinna ^a   Ullmann, Reinhard ^a   Musante, Luciana ^a   Ropers, Hans Hilger ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Chromosome translocation; Mental retardation; Pitt Hopkins syndrome; TCF4

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR 4; DNA BINDING PROTEIN; DNA BINDING PROTEIN 6; HELICASE;

ADOLESCENT; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CELL FATE; CHROMOSOME 20; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 18; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE SEVERITY; EPILEPSY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE FUNCTION; GENE MUTATION; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HYPERVENTILATION; MENTAL DEFICIENCY; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PITT HOPKINS SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 20; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TCF TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 49449094620     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32419     Document Type: Article

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