Steel, Edward

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. [electronic resource] - Clinical dysmorphology Apr 2020 - 73-80 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0000000000000311 doi


Child, Preschool
Genetic Association Studies
Genetic Predisposition to Disease
Homozygote
Humans
Hypoglycemia--diagnosis
Infant
LDL-Receptor Related Proteins--genetics
Male
Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Radiography
Siblings
Syndactyly--diagnosis
Tomography, X-Ray Computed