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Ectodermal manifestations in Menkes disease.

C M Moore·R R Howell
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Abstract

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

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Brain Diseases, MetabolicChildChild, PreschoolFemaleFollow-Up StudiesGenetic Carrier ScreeningGenetic LinkageHairHumansInfantInfant, NewbornMaleMenkes Kinky Hair SyndromePedigreeRiskSex FactorsSkin PigmentationX ChromosomeCase ReportsJournal Article

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C M Moore, R R Howell. 1985. Ectodermal manifestations in Menkes disease.. https://doi.org/10.1111/j.1399-0004.1985.tb00422.x

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