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
- Baz-Redón, N.
- Soler-Colomer, L.
- Fernández-Cancio, M.
- Benito-Sanz, S.
- Garrido, M.
- Moliné, T.
- Clemente, M.
- Camats-Tarruella, N.
- Yeste, D.
Aldizkaria:
Frontiers in Endocrinology
ISSN: 1664-2392
Argitalpen urtea: 2022
Alea: 13
Mota: Artikulua