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Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
S S Emami, W B WB Rizzo, K P KP Hanley, J M JM Taylor, M E ME Goldyne and M L ML Williams
Arch Dermatol 128(9):1213-22 (1992)
PMID 1519936
Peroxisomal deficiency has been described in a number of syndromes characterized by chondrodysplasia punctata, including the Conradi-Hünermann (C-H) syndrome. Because of overlapping clinical features of X-chromosome inheritance, ichthyosis, and limb-reduction defects in C-H and CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndromes, we examined peroxisomal content using diaminobenzidine cytochemistry and peroxisomal functions in fibroblasts from involved vs uninvolved skin of CHILD syndrome.
DOI:
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DOI:
Version: za2963e q8za3 q8zb8 q8zc7 q8zdb q8ze1 q8zf7 q8zg5