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Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1

Fatemeh Faghihi, Hossein Jafari Khamirani, Sina Zoghi, Neda Kamal, Babak Shirazi Yeganeh, Mehdi Dianatpour, Kaoru Tabei, Seyed Alireza Dastgheib

2022European Journal of Medical Genetics14 citationsDOI

Topics & Concepts

IchthyosisPhotophobiaDermatologyHearing lossErythrodermaFailure to thriveMedicineKeratitisHypotoniaCongenital ichthyosisProbandKeratodermaGeneticsHyperkeratosisBiologyPediatricsMutationAudiologyOphthalmologyGeneTrace Elements in HealthConnexins and lens biologyRNA regulation and disease
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1 | Litcius