Novel and Recurrent KIND1 Mutations in Two Patients with Kindler Syndrome and Severe Mucosal Involvement

Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

BACKGROUND Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esop...

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Gastrointestinal Manifestation of Kindler Syndrome

1. Kindler T. congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11. 2. Yazdanfar A, Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol 2009; 48:145-52. 3. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in Native Americans from Panama: report...

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.