[Dyskeratosis congenita in a 40-year-old patient].

Benoit, S

[Dyskeratosis congenita in a 40-year-old patient]. [electronic resource] - Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete Apr 2006 - 313-5 p. digital

Publication Type: Case Reports; Journal Article

0017-8470

10.1007/s00105-005-0937-2 doi


Adult
Amino Acid Substitution--genetics
Cell Cycle Proteins--genetics
Chromosomes, Human, X
Diagnosis, Differential
Dyskeratosis Congenita--diagnosis
Exons
Genes, Recessive
Genetic Carrier Screening
Humans
Isoleucine--genetics
Male
Methionine--genetics
Mutation, Missense
Nuclear Proteins--genetics
Sex Chromosome Aberrations
Thrombocytopenia--etiology