Associated Papers
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E et al.
Embo Molecular Medicine, 2025
39609633 (PubMed )
Supplement: 44321_2024_178_MOESM1_ESM.xlsx › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.
Sharafieh R et al.
Ophthalmic Genetics, 0
A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.
Safari I et al.
Journal of Ophthalmic & Vision Research, 0
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