Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype

European Journal of Pediatrics

Volumn 172, Issue 8, 2013, Pages 1131-1135

  Sethi, Sidharth Kumar ^a   Goyal, Deepak ^a   Khalil, Sumaira ^a   Yadav, Dinesh Kumar ^a  

^a DR RAM MANOHAR LOHIA HOSPITAL   (India)

Author keywords

GL13 mutation; Greig cephalopolysyndactyly syndrome; Hypertelorism; Macrocephaly; Polysyndactyly

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL EXAMINATION; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL SYNOSTOSIS; DIAPHRAGM HERNIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HETEROZYGOSITY; HUMAN; HYPERTELORISM; MACROCEPHALY; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RARE DISEASE; SYNDACTYLY; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; FEMALE; FINGERS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYDACTYLY; SEQUENCE ANALYSIS, DNA; SYNDACTYLY; TOES;

EID: 84881102803     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-1938-2     Document Type: Article

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