Figure 1.
Examples of clinical manifestations of telomere biology disorders. (A) Tongue leukoplakia in Clinical Case 1; (B) hyper- and hypopigmentation on the trunk in Clinical Case 2; (C) nail dysplasia in Clinical Case 2; (D) examples of lymphocyte telomere lengths measured by flow cytometry with in situ hybridization from NCT00027274 study participants. Circle color codes by sex and causative gene: red, male with heterozygous TINF2; green, male with DKC1; gray, male with DKC1; orange, female with autosomal recessive RTEL1; blue, male with heterozygous TERT; purple, female with heterozygous TERC. Clinical Case 2 is designated with a black X; (E) TBD phenotype progression in Clinical Cases 1 and 2 by age group with age at diagnosis noted.

Examples of clinical manifestations of telomere biology disorders. (A) Tongue leukoplakia in Clinical Case 1; (B) hyper- and hypopigmentation on the trunk in Clinical Case 2; (C) nail dysplasia in Clinical Case 2; (D) examples of lymphocyte telomere lengths measured by flow cytometry with in situ hybridization from NCT00027274 study participants. Circle color codes by sex and causative gene: red, male with heterozygous TINF2; green, male with DKC1; gray, male with DKC1; orange, female with autosomal recessive RTEL1; blue, male with heterozygous TERT; purple, female with heterozygous TERC. Clinical Case 2 is designated with a black X; (E) TBD phenotype progression in Clinical Cases 1 and 2 by age group with age at diagnosis noted.

AVM, arteriovenous malformation; SCC, squamous cell carcinoma.

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