Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosence-phaly spectrum: Mutation review and genotype-phenotype correlations

Human Mutation

Volumn 24, Issue 1, 2004, Pages 43-51

  Dubourg, Christèle ^a,c   Lazaro, Leïla ^b   Pasquier, Laurent ^b   Bendavid, Claude ^a,c   Blayau, Martine ^a   Le Duff, Franck ^a   Durou, Marie Renée ^a   Odent, Sylvie ^b   David, Véronique ^a,c  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b SERVICE DE RHUMATOLOGIE   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

Author keywords

Genotype phenotype; Holoprosencephaly; Mutation analysis; SHH; SIX3; Sonic hedgehog; TGIF; ZIC2

Indexed keywords

COMPLEMENTARY DNA; HOMEODOMAIN PROTEIN; SMAD PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; BRAIN MALFORMATION; CHILD; DISEASE SEVERITY; FETUS; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOLOPROSENCEPHALY; HOMEOBOX; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHH GENE; SIX3 GENE; TGIF GENE; ZIC2 GENE;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; FETAL DISEASES; GENETIC HETEROGENEITY; GENOTYPE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PREGNANCY; PREGNANCY OUTCOME; REPRESSOR PROTEINS; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS;

CYCLOPIA; ERINACEIDAE;

EID: 3042824626     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20056     Document Type: Article

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