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