GAPO syndrome: a novel variant in ANTXR1 gene-Reference-Cited by-同舟云学术

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GAPO syndrome: a novel variant in ANTXR1 gene

Published:2024-05 Issue:4 Volume:45 Page:395-400
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Damagatla Manikanta¹^ORCID,Verma Anshuman²^ORCID,Pochaboina Venkatesh²,Bhate Manju³^ORCID,Senthil Sirisha¹^ORCID

Affiliation:

1. VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India

2. Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India

3. Strabismus, Paediatric and Neuro-Ophthalmology Services (MB), Jasti V Ramanamma Children’s Eye Care Center, LV Prasad Eye Institute, Hyderabad, India

Funder

Hyderabad Eye Research Foundation

Hyderabad Eye Institute

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2345879

Reference15 articles.

1. Growth retardation, Alopecia, Pseudo-anodontia, and optic atrophy—The GAPO syndrome: Report of a patient and review of the literature

2. A case of pseudoanodontia in connection with cranial deformity, nanosomia, and extodermal dysplasia

3. Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings

4. Mutations in ANTXR1 Cause GAPO Syndrome

5. The Structure of Tumor Endothelial Marker 8 (TEM8) Extracellular Domain and Implications for Its Receptor Function for Recognizing Anthrax Toxin

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