Nature: A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma

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European Journal of Pediatric Dermatology
European Journal of Pediatric Dermatology
European Journal of Pediatric Dermatology
Erythrokeratodermia Figurata Variabilis
Dynamic Role of trans Regulation of Gene Expression in Relation to
Confirming the recessive inheritance of PERP‐related erythrokeratoderma
Erythrokeratodermia Variabilis Erythrokeratoderma Variabilis In A
Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting
New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with
Integration of Phenotype Term Prioritization and Gene Expression
Integration of Phenotype Term Prioritization and Gene Expression
Mutations in KDSR Cause Recessive Progressive Symmetric
Genodermatoses with hearing impairment - Journal of the American
Genodermatoses with hearing impairment - Journal of the American
Neonatal Erythroderma as an Early Sign of Primary Immunodeficiency
Erythrokeratoderma - Symptoms, Causes, Treatment | NORD
Erythrokeratoderma - Symptoms, Causes, Treatment | NORD
New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with
Connexin Mutations in Skin Disease and Hearing Loss: The American
The desmosome is a mesoscale lipid raft–like membrane domain
Erythrokeratodermia Figurata Variabilis
Erythrokeratodermia Variabilis
Keratitis-ichthyosis-deafness (KID) syndroom

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