Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report

  1. Atencia Goñi, J.
  2. Orera Clemente, M.
  3. Del Valle Diéguez, M.J.
  4. González Fernández, L.
  5. González Albarrán, O.
Journal:
Endocrinologia, Diabetes y Nutricion

ISSN: 2530-0172 2530-0164

Year of publication: 2024

Volume: 71

Issue: 3

Pages: 138-143

Type: Review

DOI: 10.1016/J.ENDINU.2023.12.011 GOOGLE SCHOLAR