Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas...
International audienceXeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a def...
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA ...
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are ...
De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum...
Background Xeroderma pigmentosum is an autosomal recessive gerodermatosis with an incidence of 1 to...
AbstractDe Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pig...
Abstract Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunb...
Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with ...
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by su...
The human body employs different DNA repair pathways to protect itself against cancers induced by DN...
Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typ...
Background. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induce...
Abstract Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative dis...
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to rep...
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individu...
International audienceXeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a def...
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA ...
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are ...
De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum...
Background Xeroderma pigmentosum is an autosomal recessive gerodermatosis with an incidence of 1 to...
AbstractDe Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pig...
Abstract Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunb...
Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with ...
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by su...
The human body employs different DNA repair pathways to protect itself against cancers induced by DN...
Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typ...
Background. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induce...
Abstract Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative dis...
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to rep...
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individu...
International audienceXeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a def...
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA ...
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are ...