Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.
aInstitute of Child Health, University College London bNorth West Thames Regional Genetics Service, London cEhlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK dMaritime Medical Genetics Service, Halifax, Nova Scotia, Canada.
Caoimhe
C
McKenna
Anthony
A
Vandersteen
Emma
E
Wakeling
Francis M
FM
Pope
Neeti
N
Ghali
D000483:Alleles; D019943:Amino Acid Substitution; D024061:Collagen Type III / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype
C439971:COL3A1 protein, human; D024061:Collagen Type III