Associated Papers
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.
Hirvonen EAM et al.
Leukemia, 2019
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta L et al.
Orphanet Journal of Rare Diseases, 2018
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