Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-9
A human importin-β-related disorder : syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Source
The American journal of human genetics - ISSN 0002-9297-108:6 (2021) p. 1115-1125