A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement
Peduto C,Huber C,Paya C,Audo I,Boddaert N,Cormier‐Daire V
Source :
Wiley
2026 Aug 27
Pmid / DOI:
10.1002/ajmg.a.70286