A homozygous hypomorphic<i>BNIP1</i>variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia-Reference-Cited by-同舟云学术

A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia

Published:2022-03-21 Issue:5 Volume:43 Page:625-642
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Holling Tess¹,Bhavani Gandham S.²,Elsner Leonie¹,Shah Hitesh³,Kausthubham Neethukrishna²,Bhattacharyya Shaila S.⁴,Shukla Anju²,Mortier Geert R.⁵,Schinke Thorsten⁶,Danyukova Tatyana⁶,Pohl Sandra⁶^ORCID,Kutsche Kerstin¹^ORCID,Girisha Katta M.²

Affiliation:

1. Institute of Human Genetics University Medical Center Hamburg‐Eppendorf Hamburg Germany

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

3. Department of Orthopedics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

4. Department of Pediatrics Manipal Hospital Bengaluru India

5. Center for Medical Genetics University of Antwerp and Antwerp University Hospital Antwerp Belgium

6. Department of Osteology and Biomechanics University Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24368

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