A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Tooth development is regulated by multiple genetic pathways, which ultimately drive the
complex interactions between the oral epithelium and mesenchyme. Disruptions at any time …
complex interactions between the oral epithelium and mesenchyme. Disruptions at any time …
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1
O Yildiz, E Taşdelen, T Karakaya… - Clinical …, 2022 - journals.lww.com
GAPO syndrome (Growth retardation, Alopecia, Pseudo anodontia, and Optic atrophy) is a
distinct genetic entity caused by biallelic pathogenic variants in the ANTXR1 gene. We have …
distinct genetic entity caused by biallelic pathogenic variants in the ANTXR1 gene. We have …
Dental Management of Siblings with GAPO Syndrome
A Kim, S Rogers, J Archibald… - Journal of Dentistry for …, 2021 - ingentaconnect.com
GAPO syndrome is a rare autosomal recessive genetic disorder, characterized by growth
retardation, alopecia, pseudoanodontia, and progressive ocular changes. This disorder is …
retardation, alopecia, pseudoanodontia, and progressive ocular changes. This disorder is …
[引用][C] Genetic Defects of Nails and Nail Growth
S Gordon, AS Paller - Rook's Textbook of Dermatology, 2023 - Wiley Online Library
Several genetic disorders manifest with nail dystrophy, allowing diagnosis and clues to
seeking manifestations beyond the nail changes. Pachyonychia congenita results from …
seeking manifestations beyond the nail changes. Pachyonychia congenita results from …