Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis
- 31 May 1993
- journal article
- case report
- Published by Elsevier in Journal of the American Academy of Dermatology
- Vol. 28 (5) , 820-826
- https://doi.org/10.1016/0190-9622(93)70109-7
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Trichothiodystrophy with chronic neutropenia and mild mental retardationJournal of the American Academy of Dermatology, 1991
- Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasiasJournal of the American Academy of Dermatology, 1990
- Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophyMutation Research/DNA Repair, 1990
- Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.Journal of Medical Genetics, 1990
- PIBI(D)S syndrome—trichothiodystrophy with xeroderma pigmento sum (group D) mutationJournal of the American Academy of Dermatology, 1987
- PIBIDS: Tay's syndrome and xeroderma pigmentosumJournal of the American Academy of Dermatology, 1985
- Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failureJournal of the American Academy of Dermatology, 1984
- Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.Journal of Medical Genetics, 1984
- LETHALITY AND THE INDUCTION AND REPAIR OF DNA DAMAGE IN FAR, MID OR NEAR UV‐IRRADIATED HUMAN FIBROBLASTS: COMPARISON OF EFFECTS IN NORMAL, XERODERMA PIGMENTOSUM AND BLOOM'S SYNDROME CELLSPhotochemistry and Photobiology, 1982
- The Marinesco-Sjögren syndromeThe Journal of Pediatrics, 1964