Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

  1. Baz-Redón, N.
  2. Soler-Colomer, L.
  3. Fernández-Cancio, M.
  4. Benito-Sanz, S.
  5. Garrido, M.
  6. Moliné, T.
  7. Clemente, M.
  8. Camats-Tarruella, N.
  9. Yeste, D.
Journal:
Frontiers in Endocrinology

ISSN: 1664-2392

Year of publication: 2022

Volume: 13

Type: Article

DOI: 10.3389/FENDO.2022.957969 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus