Functional validation of a novel <i>AAAS</i> variant in an atypical presentation of Allgrove syndrome-Reference-Cited by-同舟云学术

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Published:2022-05-15 Issue:7 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Macke Erica L.¹²^ORCID,Morales‐Rosado Joel A.¹²^ORCID,Macklin‐Mantia Sarah K.³,Schmitz Christopher T.¹,Oskarsson Björn⁴,Klee Eric W.¹²⁵,Wierenga Klaas J.⁴^ORCID

Affiliation:

1. Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

2. Department of Quantitative Health Sciences Mayo Clinic Rochester Minnesota USA

3. Department of Medical Genetics Mayo Clinic Jacksonville Florida USA

4. Department of Neurology Mayo Clinic Jacksonville Florida USA

5. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1966

Reference20 articles.

1. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome

2. Case report of a familial triple: a syndrome and review of the literature

3. Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

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