Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Nature Genetics

Volumn 25, Issue 4, 2000, Pages 423-426

  Van Bokhoven, Hans ^a   Celli, Jacopo ^a   Kayserili, Hülya ^b   Van Beusekom, Ellen ^a   Balci, Sevim ^c   Brussel, Wim ^d   Skovby, Flemming ^e   Kerr, Bronwyn ^f   Percin, E Ferda ^g   Akarsu, Nurten ^c   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ISTANBUL UNIVERSITY   (Turkey)

^c HACETTEPE UNIVERSITY   (Turkey)

^d RIJNSTATE HOSPITAL   (Netherlands)

^e Rigshospitalet   (Denmark)

^f ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^g CUMHURIYET UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN ROR2; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 9Q; CLEFT FACE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FACE MALFORMATION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENITAL MALFORMATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; ROBINOW SYNDROME; SHORT LIMBED DWARFISM; STOP CODON; TURKEY (REPUBLIC); VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA; DNA MUTATIONAL ANALYSIS; FACE; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDACTYLY; SYNDROME;

EID: 0034426036     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/78113     Document Type: Article

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