The Walker-Warburg phenotype and genotype among Irish Travellers.
Murphy
Anne-Marie
AM
The National Centre for Medical Genetics Department of Neonatology, Our Lady's Hospital for Sick Children, Crumlin Conway Institute, School of Medicine and Medical Sciences, University College, Dublin Department of Paediatrics, Mayo General Hospital, Castlebar Co. Mayo, Ireland.
Sheridan
Margaret
M
O'Neill
Michael B
MB
Green
Andrew
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D003402:Creatine Kinase / Q000097:blood; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D013577:Syndrome
D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase; D003402:Creatine Kinase