<scp>SMG9</scp> ‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder

Subjects

Subjects :

Genetics
0303 health sciences
Deficiency syndrome
030305 genetics & heredity
Biology
medicine.disease
Phenotype
Developmental disorder
03 medical and health sciences
Mutation (genetic algorithm)
Genotype
medicine
Missense mutation
Genetics (clinical)
030304 developmental biology

Details

ISSN :

15524833 and 15524825

Volume :

182

Database :

OpenAIRE

Journal :

American Journal of Medical Genetics Part A

Accession number :

edsair.doi...........0c15d59df07c9990210622810bb36eb4