Associated Papers
GAPO syndrome: a comprehensive examination and review of 105 clinical cases.
Modafferi C et al.
Journal of Medical Genetics, 2025
Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption.
El-Moataz Bellah Ahmed N et al.
The Saudi Dental Journal, 2024
ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
Przyklenk M et al.
Scientific Reports, 2024
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Abdel-Hamid MS et al.
American Journal of Medical Genetics. Part A, 2019
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Dinckan N et al.
American Journal of Medical Genetics. Part A, 2018
A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.
Chattopadhyay E et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2017
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y et al.
American Journal of Medical Genetics. Part A, 2014
Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.
Zeydan B et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in ANTXR1 cause GAPO syndrome.
Stránecký V et al.
American Journal of Human Genetics, 2013
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