DeSanctis–Cacchione syndrome | |
---|---|
Other names | Xeroderma pigmentosum with neurologic manifestation [1] |
![]() | |
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
Specialty | Medical genetics |
DeSanctis–Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. [2]
In at least some case, the gene lesion involves a mutation in the CSB gene. [3]
It can be associated with ERCC6. [4]
![]() | This section is empty. You can help by
adding to it. (August 2017) |
![]() | This section is empty. You can help by
adding to it. (August 2017) |
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
DeSanctis–Cacchione syndrome | |
---|---|
Other names | Xeroderma pigmentosum with neurologic manifestation [1] |
![]() | |
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
Specialty | Medical genetics |
DeSanctis–Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. [2]
In at least some case, the gene lesion involves a mutation in the CSB gene. [3]
It can be associated with ERCC6. [4]
![]() | This section is empty. You can help by
adding to it. (August 2017) |
![]() | This section is empty. You can help by
adding to it. (August 2017) |
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)