Article
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
The Journal of investigative dermatology - 1 Jun 2002
Emmert Steffen, Slor Hanoch, Busch David B, Batko Sima, Albert Roberta B, Coleman Donna, Khan Sikandar G, Abu-Libdeh Bassam, DiGiovanna John J, Cunningham Bari B, Lee Myung-Moo, Crollick Jill, Inui Hiroki, Ueda Takahiro, Hedayati Mohammad, Grossman Lawrence, Shahlavi Tala, Cleaver James E, Kraemer Kenneth H
Abstract excerpt
We studied three newly diagnosed xeroderma pigmentosum complementation group G patients with markedly different clinical features. An Israeli-Palestinian girl (XP96TA) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sensitivity, neurologic and developmental impairment, and death by age 6 y. A Caucasian girl (XP82DC) also had severe sun sensitivity with...
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