Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?-Reference-Cited by-同舟云学术

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?

Published:2020-07-13 Issue:9 Volume:182 Page:2010-2020
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Koh Ai Ling¹²^ORCID,Bonnard Carine³,Lim Jiin Ying¹²,Liew Woei Kang¹,Thoon Koh Cheng¹²,Thomas Terrence¹²,Ali Nur Ain Binte³,Ng Alvin Yu Jin⁴,Tohari Sumanty⁴,Phua Kong Boo¹²,Venkatesh Byrappa⁴⁵,Reversade Bruno³⁴⁵,Jamuar Saumya Shekhar¹²⁶⁷^ORCID

Affiliation:

1. Department of PaediatricsKK Women's and Children's Hospital, Singapore Singapore Singapore

2. Paediatric Academic Clinical ProgrammeDuke‐NUS Medical School Singapore Singapore

3. Institute of Medical BiologyA*STAR Singapore Singapore

4. Institute of Molecular and Cell BiologyA*STAR Singapore Singapore

5. Department of PaediatricsNational University of Singapore Singapore Singapore

6. SingHealth Duke‐NUS Institute of Precision Medicine Singapore Singapore

7. SingHealth Duke‐NUS Genomic Medicine Centre Singapore Singapore

Funder

Agency for Science, Technology and Research (A*STAR), Singapore

Publisher

Wiley