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An atypical case of Cockayne's syndrome
Author(s) -
Pfeiffer R. A.,
Bachmann K. D.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01118.x
Subject(s) - cockayne syndrome , atrophy , hearing loss , medicine , cachexia , dwarfism , audiology , genetics , biology , gene , cancer , nucleotide excision repair , dna repair
Extreme postnatal growth disturbance, loss of vision and hearing, atrophy of the skin and general cachexia are features of a syndrome observed in the only child of related normal parents The resemblance with Cockayne's syndrome is discusced.