The clinical, anatomical and biochemical variations in this disease are well demonstrated in the family here described. The transmission of the syndrome in this family seems to be by means of an X-linked gene. The presence of lenticular opaci ties in all mothers of affected males may indicate an X-linked, partially dominant, or intermediate transmission pattern. The observed delay in the appearance of hyperaminoaciduria in one youngster is suggestive of a progressive renal tubular lesion.
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Holinies et al. (1972) studied this question.
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