Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Nature Genetics

Volumn 25, Issue 4, 2000, Pages 419-422

  Afzal, Ali R ^a   Rajab, Anna ^b   Fenske, Christiane D ^a   Oldridge, Michael ^c   Elanko, Navaratnam ^c   Ternes Pereira, Eliana ^d   Tüysüz, Beyhan ^e   Murday, Victoria A ^a   Patton, Michael A ^a   Wilkie, Andrew O M ^c   Jeffery, Steve ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b MINISTRY OF HEALTH   (Oman)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

^e ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN ROR2; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BRACHYDACTYLY; CHROMOSOME 9Q; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FACE DYSMORPHIA; GENE FUNCTION; GENE MUTATION; HUMAN; LIMB DEFECT; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; ROBINOW SYNDROME; SPINE MALFORMATION;

ABNORMALITIES, MULTIPLE; ALLELES; DNA; DNA MUTATIONAL ANALYSIS; FACE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CELL SURFACE; SYNDACTYLY; SYNDROME;

EID: 0034425405     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/78107     Document Type: Article

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