Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual

American Journal of Medical Genetics

Volumn 90, Issue 3, 2000, Pages 239-242

  Sobetzko, Diana ^a   Eich, Georg ^a   Kalff Suske, Martha ^b   Grzeschik, Karl Heinz ^b   Superti Furga, Andrea ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Congenital spondyloepiphyseal dysplasia; GLI3, COL2A1; Greig cephalopolysyndactyly syndrome; Two dominant disorders

Indexed keywords

ANAMNESIS; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL OBSERVATION; GENE MUTATION; HUMAN; MACROCEPHALY; MALE; MOLECULAR GENETICS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; COLLAGEN; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LOD SCORE; MALE; NERVE TISSUE PROTEINS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; REPRESSOR PROTEINS; SKULL; TRANSCRIPTION FACTORS; XENOPUS PROTEINS;

EID: 0034737010     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000131)90:3<239::AID-AJMG10>3.0.CO;2-O     Document Type: Article

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