Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia-Reference-Cited by-同舟云学术

Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia

Published:2021-07-17 Issue:12 Volume:185 Page:3675-3682
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wade Emma M.¹^ORCID,Jenkins Zandra A.¹,Morgan Tim¹,Gimenez Gregory²,Gibson Hayley¹,Peng Hui¹,Sanchez Russo Rossana³,Skraban Cara M.⁴⁵,Bedoukian Emma⁵,Robertson Stephen P.¹^ORCID

Affiliation:

1. Department of Women's and Children's Health Dunedin School of Medicine, University of Otago Dunedin New Zealand

2. Department of Pathology, Dunedin School of Medicine University of Otago Dunedin New Zealand

3. Department of Human Genetics Emory University Atlanta Georgia USA

4. Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. The Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Funder

Cure Kids

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62424

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1. The hinge‐1 domain of Flna is not necessary for diverse physiological functions in mice;European Journal of Clinical Investigation;2024-08-31

2. X-linked frontometaphyseal dysplasia 1;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-07-13

3. FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function;Bone Reports;2023-06

4. Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves;eLife;2022-09-20

5. <i>FLNA</i>-Filaminopathy Skeletal Phenotypes are Not Due to an Osteoblast Autonomous Loss-of-Function;SSRN Electronic Journal;2022