Arthrogryposis–renal dysfunction–cholestasis syndrome
Appearance
Arthrogryposis–renal dysfunction–cholestasis syndrome | |
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Other names | ARC syndrome[1] |
Specialty | Dermatology |
Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene.[2] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years.
See also
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome". www.orpha.net. Retrieved 18 May 2019.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
External links