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- W2067382686 abstract "We cared for two sisters, ages 3 and 4 years, who suffered from congenital atrichia. Scalp biopsies performed on both children revealed a marked atrophy of hair follicles with rudimentary hair shafts. The absence of peribulbar infiltrates ruled out alopecia areata. Dystrophy of all nails, distinctive facies, retarded psychomotor development, and a delay in speaking were additional symptoms. The unique combination of findings excludes well-established syndromes such as atrichia with papular lesions, GAPO syndrome, and dominant hidrotic ectodermal dysplasia, as well as X-linked hypohidrotic ectodermal dysplasia. We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance." @default.
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- W2067382686 date "1988-11-01" @default.
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- W2067382686 title "Congenital Atrichia with Nail Dystrophy, Abnormal Facies, and Retarded Psychomotor Development in Two Siblings: A New Autosomal Recessive Syndrome?" @default.
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- W2067382686 doi "https://doi.org/10.1111/j.1525-1470.1988.tb00894.x" @default.
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