Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]
Dababseh BH +5 more
europepmc +1 more source
Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing. [PDF]
Phipps J, Popescu O.
europepmc +1 more source
Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link. [PDF]
Han JY +4 more
europepmc +1 more source
Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]
Uitto, Jouni
core +1 more source
An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery. [PDF]
Ghaznavi A +3 more
europepmc +1 more source
Genetic Heterogeneity in Lamellar Ichthyosis
Hohl, Daniel, Huber, Marcel
openaire +1 more source
Unusual Dermatological and Neurological Presentation in a 10-Year-Old Boy.
Mendiratta V, Verma D, Sonker S.
europepmc +1 more source
Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria. [PDF]
Jazmati A +7 more
europepmc +1 more source
The role of the skin microbiome in inherited ichthyoses: A systematic review. [PDF]
Metyovinyi Z +4 more
europepmc +1 more source
Mirror Movements and Ichthyosis in a Child: A Rare Presentation of Kallmann Syndrome. [PDF]
Vachher H +3 more
europepmc +1 more source

