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42 Possible Causes for pfendner

  • Junctional Epidermolysis Bullosa

    Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW.[ghr.nlm.nih.gov] ., 2008 ExpDermatol. 17:553-68 Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors.[genedx.com] Pfendner, E. G., & Lucky, A. W. (2014). Junctional epidermolysis bullosa. Flügel, M., von Rauffer, L., & Landsleitner, B. (1984). Epidermolysis bullosa hereditaria.[dovemed.com]

  • Herlitz Disease

    Nakano A, Pfendner E, Hashimoto I, Uitto J 2000.[sequenom.com] J Clin Invest 91:2275–2280 PubMed Google Scholar Nakano A, Pfendner E, Hashimoto I, Uitto J (2000) Herlitz junctional epidermolysis bullosa: novel and recurrent mutations[link.springer.com] Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW.[ghr.nlm.nih.gov]

  • Epidermolysis Bullosa

    Lucky AW, Pfendner E, Pillay E, Paskel J, Weiner M, Palisson F.[rarediseases.org] ., 2008 ExpDermatol. 17:553-68 Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors.[genedx.com] Varki, Roslyn; Sadowski, Sara; Uitto, Jouni; Pfendner, Ellen (2007-03-01). "Epidermolysis bullosa. II.[en.wikipedia.org]

  • Esophageal Web

    J Rare diseases 1996, 2;5-14 Judeh abu sa’d, Margarita Indelman, Ellen Pfendner et all.[journalijar.com]

  • Harlequin Type Ichthyosis

    Uitto J, Pfendner E, Jackson LG (2003) Probing the fetal genome: progress in non-invasive prenatal diagnosis. Trends Mol Med 9:339–43 CrossRef PubMed Google Scholar 14.[link.springer.com]

  • Pseudoxanthoma Elasticum

    ., (2000) Nat Genet 25(2):228-31 Pfendner et al., (2008) Expert Opin Me.[genedx.com] Pfendner EG, Vanakker OM, Terry SF, et al. (2007).[en.wikipedia.org] (PXE-like) GGCX [HSA: 2677 ] [KO: K10106 ] Other DBs ICD-11: EC40 ICD-10: Q82.8 MeSH: D011561 OMIM: 264800 177850 610842 Reference PMID: 19054062 Authors Li Q, Jiang Q, Pfendner[genome.jp]

  • Netherton Syndrome

    Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner[ghr.nlm.nih.gov] Chavanas S, Di Giovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner[karger.com]

  • Epidermolysis Bullosa Simplex

    J Invest Dermatol 2006 Pfendner EG, et al 2005. J Invest Dermatol 125:239-243 Smith F.2003.[genedx.com] Available from Pfendner EG, Sadowski SG, Uitto J.[ghr.nlm.nih.gov] J Invest Dermatol. 2005; 124 :111–5. [ PubMed : 15654962 ] Pfendner EG, Sadowski SG, Uitto J.[ncbi.nlm.nih.gov]

  • Epidermolysis Bullosa-Pyloric Atresia

    Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW.[ghr.nlm.nih.gov] Pfendner EG, Lucky AW (2008) Epidermolysis bullosa with pyloric atresia. (Updated 2013, February 14). In: Pagon RA, Bird TD, Dolan CR et al.[link.springer.com] […] family not known to be at risk. ( 15912478 ) De Jenlis Sicot B....Subtil D. 2005 16 Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. ( 15654962 ) Pfendner[malacards.org]

  • Spinocerebellar Ataxia Type 5

    […] molecular variant with schizophrenia Lee et al. 1998 The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms Pfendner[encrypted.google.com]

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