Nelmar V. Cabrera-Ortiz

Nino Jesus, MD, Spain

Last Updated: 09/26/2026

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Found 27 publications

Honeycomb-pattern of plantar keratoderma in a patient with biallelic CTSC pathogenic variants.

Honeycomb-pattern of plantar keratoderma in a patient with biallelic CTSC pathogenic variants.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: November 17, 2025

Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes.

Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes.

Journal: Epilepsia

Published: September 29, 2025

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

Journal: Molecular syndromology

Published: May 20, 2025

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity.

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity.

Journal: Acta dermato-venereologica

Published: February 14, 2025

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: December 11, 2024

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics

Published: September 13, 2024

Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.

Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.

Journal: Journal of autism and developmental disorders

Published: May 05, 2024

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Journal: Pediatric neurology

Published: May 02, 2024

Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis.

Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis.

Journal: Journal of intellectual disability research : JIDR

Published: January 28, 2024

Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series.

Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: February 16, 2023

Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius

Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius

Journal: Rehabilitacion

Published: December 15, 2022

Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.

Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: December 29, 2021

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Last Updated: 09/26/2026