Defective somitogenesis and abnormal vertebral segmentation in man.
Turnpenny
Peter D
PD
Clinical Genetics Department, Royal Devon & Exeter Hospital, Gladstone Road, Exeter EX1 2ED, United Kingdom. peter.turnpenny@rdeft.nhs.uk
D016738:Alagille Syndrome / Q000196:embryology / Q000235:genetics; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D019521:Body Patterning / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000196:embryology / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics; D004413:Dysostoses / Q000151:congenital / Q000196:embryology / Q000235:genetics; D016695:Glycosyltransferases / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D051880:Receptors, Notch / Q000235:genetics; D000072099:Serrate-Jagged Proteins; D015398:Signal Transduction / Q000235:genetics; D019170:Somites / Q000002:abnormalities* / Q000196:embryology; D013131:Spine / Q000002:abnormalities* / Q000196:embryology
D051792:Basic Helix-Loop-Helix Proteins; D002135:Calcium-Binding Proteins; D016695:Glycosyltransferases; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D051880:Receptors, Notch; D000072099:Serrate-Jagged Proteins; C496666:DLL3 protein, human; C498393:LFNG protein, human