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Three further families with pseudo-monilethrix are studied, the first family having been described by the present authors in 1973. Similar clinical and genetic features are found in all 4 families confirming the inheritance as an autosomal dominant with variable penetrance. Pseudo-monilethrix is associated with formes fruste of pili torti and trichorrhexis nodosa in a significant number of members of all 4 families.
KeywordsInternal Medicine Metabolic Disease Present Author Genetic Feature Variable Penetrance
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