Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

Journal of Applied Genetics

Volumn 53, Issue 4, 2012, Pages 415-422

  Jamsheer, Aleksander ^a,b   Sowińska, Anna ^a,b   Trzeciak, Tomasz ^a   Jamsheer Bratkowska, Małgorzata ^c   Geppert, Anita ^a   Latos Bieleńska, Anna ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

^c NATIONAL MEDICINES INSTITUTE   (Poland)

Author keywords

GCPS; Genotype phenotype correlation; GLI3; Greig cephalopolysyndactyly; PPD IV; Preaxial polydactyly type IV

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

ARTICLE; CRANIOFACIAL MALFORMATION; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HUMAN; HYPERTELORISM; MACROCEPHALY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PALLISTER HALL SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PREAXIAL POLYDACTYLY TYPE IV; PROMINENT FOREHEAD;

ACROCEPHALOSYNDACTYLIA; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PALLISTER-HALL SYNDROME; PEDIGREE; POINT MUTATION; POLYDACTYLY; REAL-TIME POLYMERASE CHAIN REACTION; THUMB; YOUNG ADULT;

EID: 84867785975     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-012-0109-x     Document Type: Article

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