KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. In addition, neurological disease is suspected as well. Careful clinical follow-up and functional studies of (mutated) KLHL24 in these tissues are needed.</p
Skin fragility refers to a large group of conditions in which the ability of the skin to provide pro...
Epidermolysis bullosa (EB) caused by EXPH5 mutations, is an recently identified and extremely rare s...
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechan...
KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies f...
Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in t...
KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies f...
Background: Several new genes and clinical subtypes have been identified since the publication in 20...
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechan...
BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 20...
A cardiocutaneous syndrome is an overlapping term of rare, inherited and distinct clinical manifesta...
Skin fragility refers to a large group of conditions in which the ability of the skin to provide pro...
Epidermolysis bullosa (EB) caused by EXPH5 mutations, is an recently identified and extremely rare s...
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechan...
KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies f...
Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in t...
KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies f...
Background: Several new genes and clinical subtypes have been identified since the publication in 20...
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechan...
BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 20...
A cardiocutaneous syndrome is an overlapping term of rare, inherited and distinct clinical manifesta...
Skin fragility refers to a large group of conditions in which the ability of the skin to provide pro...
Epidermolysis bullosa (EB) caused by EXPH5 mutations, is an recently identified and extremely rare s...
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechan...
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