Further expansion and confirmation of phenotype in rare loss of <scp> <i>YWHAE</i> </scp> gene distinct from <scp>Miller–Dieker</scp> syndrome-Reference-Cited by-同舟云学术

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

Published:2022-11-25 Issue:2 Volume:191 Page:526-539
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Baker Elizabeth K.¹²^ORCID,Brewer Casey J.¹,Ferreira Leonardo¹²^ORCID,Schapiro Mark²³,Tenney Jeffrey²³,Wied Heather M.²³,Kline‐Fath Beth M.⁴,Smolarek Teresa A.¹²,Weaver K. Nicole¹²^ORCID,Hopkin Robert J.¹²^ORCID

Affiliation:

1. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

2. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

3. Division of Neurology Cincinnati Children's Hospital Medicine Cincinnati Ohio USA

4. Division of Radiology University of Cincinnati College of Medicine Cincinnati Ohio USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63057

Reference19 articles.

1. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation

2. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

3. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

4. Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

5. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities

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