Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Am J Med Genet A
.
2022 Jan;188(1):384.
doi: 10.1002/ajmg.a.62498.
Epub 2021 Sep 16.
Authors
Ai Ling Koh
1
,
Carine Bonnard
2
,
Nur Ain Binte Ali
3
,
Bruno Reversade
3
,
Saumya Jamuar
1
Affiliations
1
Genetics service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
2
Skin Research Institute of Singapore, A*STAR, Singapore.
3
Genome Institute of Singapore, A*STAR, Singapore.
PMID:
34528395
DOI:
10.1002/ajmg.a.62498
No abstract available
Publication types
Published Erratum