Dyskeratosis congenita in all its forms.
I Dokal - British journal of haematology, 2000 - search.ebscohost.com
British journal of haematology, 2000•search.ebscohost.com
Review Page 1 768 q 2000 Blackwell Science Ltd Review DYSKERATOSIS CONGENITA IN
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …
Abstract
Presents information on the inherited disease dyskeratosis congenita (DC). Background on the clinical aspects of the disease; Description of DC cell phenotype; Discussion on the positional cloning of the X-linked DC gene; Impact of advances and directions for research.
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