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Last Updated: 10/31/2025

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Found 301 publications

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Journal: Journal of child neurology
Published: May 05, 2025

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study.

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study.

Journal: Journal of cutaneous medicine and surgery
Published: May 03, 2025

Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.

Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.

Journal: European journal of medical genetics
Published: December 28, 2024

Clinical characterization in patients with neurocutaneous syndrome

Clinical characterization in patients with neurocutaneous syndrome

Journal: Revista medica del Instituto Mexicano del Seguro Social
Published: September 02, 2024

Neurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito.

Neurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito.

Journal: Seminars in pediatric neurology
Published: June 27, 2024

Unilateral Syndactyly, Hemihypertrophy, and Hyperpigmentation with Mosaic 2q35 Deletion.

Unilateral Syndactyly, Hemihypertrophy, and Hyperpigmentation with Mosaic 2q35 Deletion.

Journal: Indian journal of dermatology
Published: December 15, 2023

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Journal: Clinical genetics
Published: December 14, 2023

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

Journal: Frontiers in genetics
Published: December 04, 2023

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

Journal: Nature communications
Published: August 23, 2023

Neuroectodermal Diseases: A Comparative Case Report Study.

Neuroectodermal Diseases: A Comparative Case Report Study.

Journal: Cureus
Published: June 13, 2023

Multiple Abnormal Cutaneous Findings in a Patient With Hypomelanosis of Ito Undergoing General Anesthesia.

Multiple Abnormal Cutaneous Findings in a Patient With Hypomelanosis of Ito Undergoing General Anesthesia.

Journal: Anesthesia progress
Published: April 06, 2023

Carotid Artery Aneurysm and Hypomelanosis of Ito.

Carotid Artery Aneurysm and Hypomelanosis of Ito.

Journal: Pediatric neurosurgery
Published: November 15, 2022
Showing 1-12 of 301

Last Updated: 10/31/2025