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Results 1 - 10 of 28 for bruckner syndrome
  1. Kindler epidermolysis bullosa 
    ... Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. ...
    https://medlineplus.gov/.../condition/kindler-epidermolysis-bullosa - Genetics
  2. FERMT1 gene 
    ... Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. ... H, Chmel N, Kurz T, Bruckner-Tuderman L, Has C. Induction of phenotype modifying ...
    https://medlineplus.gov/genetics/gene/fermt1 - Genetics
  3. Peeling skin syndrome 2 
    ... Franzke CW, Schumann H, Oji V, Kohlhase J, Bruckner-Tuderman L, Has C. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa ...
    https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2 - Genetics
  4. TGM5 gene 
    ... Franzke CW, Schumann H, Oji V, Kohlhase J, Bruckner-Tuderman L, Has C. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa ...
    https://medlineplus.gov/genetics/gene/tgm5 - Genetics
  5. Connective Tissue Disorders: Recognizing and Treating Structural Defects From the National Institutes of Health (National Institutes of Health)  
    Connective Tissue Disorders/Statistics and Research ... Connective Tissue Disorders ... National Institutes of Health ... From the National Institutes of Health ... Your ...
    https://newsinhealth.nih.gov/2024/09/connective-tissue-disorders - National Institutes of Health
  6. COL7A1 gene 
    ... doi: 10.2340/00015555-1053. Citation on PubMed Bruckner-Tuderman ... Wang H. Bart's syndrome in a family affected three consecutive generations with ...
    https://medlineplus.gov/genetics/gene/col7a1 - Genetics
  7. LAMA3 gene 
    ... the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Citation on PubMed Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Laminin 5 ...
    https://medlineplus.gov/genetics/gene/lama3 - Genetics
  8. KRT14 gene 
    ... alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. Citation on PubMed Muller FB, Kuster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ. ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics
  9. DSP gene 
    ... Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL. Lethal acantholytic epidermolysis bullosa due to a ... M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C. Desmoplakin mutations ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  10. Incontinentia pigmenti 
    ... 10.1067/mjd.2002.125949. Citation on PubMed Bruckner AL. Incontinentia pigmenti: a window to the role ...
    https://medlineplus.gov/genetics/condition/incontinentia-pigmenti - Genetics
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