Biallelic loss‐of‐function variants in <i>EXOC6B</i> are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3-Reference-Cited by-同舟云学术

Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3

Published:2022-10-08 Issue:12 Volume:43 Page:2116-2129
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Simsek‐Kiper Pelin Ozlem¹^ORCID,Jacob Prince²^ORCID,Upadhyai Priyanka²,Taşkıran Zihni Ekim³,Guleria Vishal S.²,Karaosmanoglu Beren³,Imren Gozde³,Gocmen Rahsan⁴,Bhavani Gandham S.²,Kausthubham Neethukrishna²,Shah Hitesh⁵,Utine Gulen Eda¹,Boduroglu Koray¹,Girisha Katta M.²

Affiliation:

1. Department of Pediatric Genetics, Faculty of Medicine Hacettepe University Ankara Turkey

2. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

3. Department of Medical Genetics, Faculty of Medicine Hacettepe University Ankara Turkey

4. Department of Radiology, Faculty of Medicine Hacettepe University Ankara Turkey

5. Department of Pediatric Orthopaedics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24478

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1. Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro;Molecular Biology Reports;2024-02-02

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3. The exocyst complex in neurological disorders;Human Genetics;2023-04-22

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