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Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Orphanet J Rare Dis. 2019 Aug 1;14(1):187. doi: 10.1186/s13023-019-1163-9.
Orphanet J Rare Dis. 2019.
PMID: 31370859
Free PMC article.
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH, Dharmadhikari AV, Ragi SD, de Carvalho JRL Jr, Xu CL, Thomas AL, Buchovecky CM, Mansukhani MM, Naini AB, Liao J, Jobanputra V, Maumenee IH, Tsang SH.
Abdelhakim AH, et al.
Orphanet J Rare Dis. 2020 Nov 13;15(1):320. doi: 10.1186/s13023-020-01600-8.
Orphanet J Rare Dis. 2020.
PMID: 33187544
Free PMC article.
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