Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm
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چکیده
منابع مشابه
Kindler Syndrome: 2 Case Reports from India
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...
متن کاملKindler Syndrome: A case Report from Iran
Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...
متن کاملKindler syndrome.
Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical feat...
متن کاملGastrointestinal 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...
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ژورنال
عنوان ژورنال: Science China Life Sciences
سال: 2015
ISSN: 1674-7305,1869-1889
DOI: 10.1007/s11427-014-4775-2