- Tytuł:
-
Fatal congenital
copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1. - Autorzy:
- Źródło:
- Clinical genetics [Clin Genet] 2023 May; Vol. 103 (5), pp. 585-589. Date of Electronic Publication: 2022 Dec 28.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Copper Transporter 1*/genetics
Hepatolenticular Degeneration*/genetics
Menkes Kinky Hair Syndrome*/genetics
Humans ; Infant ; Infant, Newborn ; Ceruloplasmin/genetics ;Copper ;Copper -Transporting ATPases/genetics ; Mutation, Missense
Czasopismo naukowe