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The Journal of the Association of Physicians of India, 2001
We report four cases of Cockayne Syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.
G Q, Khan +6 more
openaire +3 more sources
We report four cases of Cockayne Syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.
G Q, Khan +6 more
openaire +3 more sources
Pediatrics, 1960
A syndrome of heredo-familial dwarfism with multiple disturbances of growth and development is described in three of a family of five children. Since the original description by Cockayne 24 years ago, only one other family and one isolated case similarly affected, have been recorded.
William B. Macdonald +2 more
openaire +1 more source
A syndrome of heredo-familial dwarfism with multiple disturbances of growth and development is described in three of a family of five children. Since the original description by Cockayne 24 years ago, only one other family and one isolated case similarly affected, have been recorded.
William B. Macdonald +2 more
openaire +1 more source
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome
Molecular Biology ReportsMeng-wei Liu +6 more
semanticscholar +1 more source