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Table 1 Characteristics of patients with Ser121Gly substitution in DKC1

From: Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report

 

Case 1

Case 2

Present case

Sex

M

M

M

Growth failure

+

+

–

Microcephaly

+

+

–

Intellectual disability

+

+

–

Cerebellar hypoplasia

+

+

–

AA, age at onset (years)

1

1.5

12

Recurrent infections

+

+

+

Cancer

n.d.

n.d.

Rectal cancer

Age at death (years)

5

n.d.

21

Reference

Knight et al., 1999 [9]

Knight et al., 1999 [14]

 
  1. Abbreviations: M Male, AA Aplastic anemia, n.d. Not described
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Journal of Medical Case Reports

ISSN: 1752-1947