Associated Papers
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient.
Loubser C et al.
American Journal of Medical Genetics. Part A, 2025
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.
Alhaidari AI et al.
Cureus, 2022
Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.
Bezuidenhout H et al.
American Journal of Medical Genetics. Part A, 2020
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