Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

Journal of Medical Genetics

Volumn 40, Issue 5, 2003, Pages 333-339

  Turnpenny, P D ^a,b   Whittock, N ^b   Duncan, J ^b   Dunwoodie, S ^c,d   Kusumi, K ^e   Ellard, S ^b  

^a ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c ST VINCENT S HOSPITAL   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; EPIDERMAL GROWTH FACTOR; GENE PRODUCT; NOTCH RECEPTOR; PROTEIN DLL3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; JARCHO LEVIN SYNDROME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RIB MALFORMATION; SIGNAL TRANSDUCTION; SPINE; SPINE RADIOGRAPHY; SPLICEOSOME; VERTEBRA BODY; VERTEBRA MALFORMATION;

EID: 0037562916     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.5.333     Document Type: Article

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