ESPE Yearbook of Paediatric Endocrinology

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...