Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis-Reference-Cited by-同舟云学术

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Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis

Published:2020-08-11 Issue:10 Volume:182 Page:2214-2221
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Velasco Harvy M.¹,Ullah Ehsan²,Martin Angela M.¹^ORCID,Hufnagel Robert B.²,Prada Carlos E.³⁴⁵^ORCID

Affiliation:

1. Master of Science in Human Genetics Program, Department of Morphology Universidad Nacional de Colombia Cundinamarca Colombia

2. Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health Bethesda Maryland USA

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

4. Fundación Cardiovascular de Colombia Bucaramanga Colombia

5. Department of Pediatrics 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.61782

Reference32 articles.

1. Type IIIc Gaucher disease and acrodysostosis;Abrahamov A.;The Israel Medical Association Journal,2000

2. Myhre syndrome with ataxia and cerebellar atrophy

3. Puromycin-sensitive aminopeptidase is the major peptidase responsible for digesting polyglutamine sequences released by proteasomes during protein degradation

4. Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

5. Puromycin-sensitive Aminopeptidase

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