- Tytuł:
- The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
- Autorzy:
- Źródło:
- Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 246-247. Date of Electronic Publication: 2022 Jun 26.
- Typ publikacji:
- Letter; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Homozygote *
China ; Heterozygote ; Humans ; Mutation ; Pedigree ; Exome Sequencing
Raport