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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

  • Published:2013-07-03 Issue:10 Volume:132 Page:1077-1130
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Cooper David N.,Krawczak Michael,Polychronakos Constantin,Tyler-Smith Chris,Kehrer-Sawatzki Hildegard

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference701 articles.

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2. Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS (2012) In search of triallelism in Bardet–Biedl syndrome. Eur J Hum Genet 20:420–427

3. Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Hosseini Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B (2013) Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 22:1328–1347

4. Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F (2013) An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. Eur J Hum Genet 21:687–690

5. Aganna E, Aksentijevich I, Hitman GA, Kastner DL, Hoepelman AI, Posma FD, Zweers EJ, McDermott MF (2001) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. Eur J Hum Genet 9:63–66

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