Background Several new targeted genes and clinical subtypes have been identified since
publication in 2008 of the report of the last international consensus meeting on diagnosis …

Sulfation is a dynamic and complex posttranslational modification process. It can occur at
various positions within the glycosaminoglycan (GAG) backbone and modulates …

Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …

Over the past decade, Next-Generation Sequencing (NGS) has advanced our
understanding, diagnosis, and management of several areas within dermatology. NGS has …

Hereditary palmoplantar keratodermas (PPK s) comprise a large and heterogeneous group
of disorders characterized by persistent thickening of the epidermis at palmar and plantar …

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure
and functional genetic variants. Combining exome sequencing with linkage studies is one of …

Nutrient sulfate is essential for numerous physiological functions in mammalian growth and
development. Accordingly, disruptions to any of the molecular processes that maintain the …

Peeling skin syndromes form a large and heterogeneous group of inherited disorders
characterized by superficial detachment of the epidermal cornified cell layers, often …

Corneodesmosomes are modified desmosomes present in the stratum corneum (SC). They
are crucial for SC cohesion and, thus, constitute one of the pivotal elements of the functional …