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developmental delays

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Articles mentioning developmental delays

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Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin

bmjcr · abstract · 2025-12-25 · 1 matching annotations

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congenital erythroderma sensorineural deafness autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome developmental delays autosomal recessive KID syndrome acitretin

…e keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analy…

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developmental delays

Articles mentioning developmental delays

Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin