Epidermolytic Palmoplantar Keratoderma Latest Advances

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: October 24, 2023

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Journal: DNA and cell biology

Published: August 11, 2023

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Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Under Pressure: A unique mechanoresponsive mechanism of body site-specific keratin regulation in palmoplantar epidermis.

Under Pressure: A unique mechanoresponsive mechanism of body site-specific keratin regulation in palmoplantar epidermis.

KRT9 hotspot mutation disrupts keratin organization and impairs Nrf2-mediated oxidative stress regulation.

KRT9 hotspot mutation disrupts keratin organization and impairs Nrf2-mediated oxidative stress regulation.

Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder.

Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder.

Noncompaction and dilated cardiomyopathy in carvajal syndrome.

Noncompaction and dilated cardiomyopathy in carvajal syndrome.

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).

CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.

NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report.

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.