A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin : a case study
Source
Clinical epigenetics - ISSN 1868-7075-17:1 (2025) p. 1-12
PHARC syndrome : an overview
Source
Orphanet journal of rare diseases - ISSN 1750-1172-19:1 (2024) p. 1-19