Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Clin Genet
; 105(2): 226-227, 2024 02.
Article
en En
| MEDLINE
| ID: mdl-37849383
ABSTRACT
We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.
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Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Artrogriposis
Límite:
Humans
Idioma:
En
Revista:
Clin Genet
Año:
2024
Tipo del documento:
Article
País de afiliación:
India