Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn

Clin Dysmorphol. 2017 Jan;26(1):50-57. doi: 10.1097/MCD.0000000000000138.

Authors

Caoimhe McKenna¹, Anthony Vandersteen, Emma Wakeling, Francis M Pope, Neeti Ghali

Affiliation

¹ 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.

PMID: 27295357
DOI: 10.1097/MCD.0000000000000138

No abstract available

Publication types

Case Reports

MeSH terms

Alleles
Amino Acid Substitution
Collagen Type III / genetics
Ehlers-Danlos Syndrome / diagnosis*
Ehlers-Danlos Syndrome / genetics*
Facies
Genotype
Humans
Infant
Infant, Newborn
Mutation
Phenotype

Substances

COL3A1 protein, human
Collagen Type III