Associated Papers
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M et al.
Ophthalmology, 2023
36423731 (PubMed )
Supplement: mmc6.pdf
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Lee YJ et al.
Molecular Genetics and Metabolism, 2009
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Lee HH et al.
Molecular Genetics and Metabolism, 2008
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