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Katsube M, Yoshiura K, Kusumoto K. A Japanese family with popliteal pterygium syndrome. Case Reports Plast Surg Hand Surg. 2015;2(3):50-2doi: 10.3109/23320885.2015.1038347.
Katsube, M., Yoshiura, K., & Kusumoto, K. (2015). A Japanese family with popliteal pterygium syndrome. Case reports in plastic surgery & hand surgery, 2(3), 50-2. https://doi.org/10.3109/23320885.2015.1038347
Katsube, Motoki, et al. "A Japanese family with popliteal pterygium syndrome." Case reports in plastic surgery & hand surgery vol. 2,3 (2015): 50-2. doi: https://doi.org/10.3109/23320885.2015.1038347
Katsube M, Yoshiura K, Kusumoto K. A Japanese family with popliteal pterygium syndrome. Case Reports Plast Surg Hand Surg. 2015 Apr 24;2(3):50-2. doi: 10.3109/23320885.2015.1038347. eCollection 2015. PMID: 27252970; PMCID: PMC4793797.
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Case Reports Plast Surg Hand Surg. 2015 Apr 24;2(3):50-2. doi: 10.3109/23320885.2015.1038347. eCollection 2015.

A Japanese family with popliteal pterygium syndrome.

Case reports in plastic surgery & hand surgery

Motoki Katsube, Koh-Ichiro Yoshiura, Kenji Kusumoto

Affiliations

  1. Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.
  2. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

PMID: 27252970 PMCID: PMC4793797 DOI: 10.3109/23320885.2015.1038347

Abstract

We investigated a family in which the mother and a daughter suffered from popliteal pterygium syndrome (PPS). Mutation in the interferon regulatory factor 6 (IRF6) gene was detected in the mother and daughter. This is the second report of a family case with mutation in the IRF6 gene in Japanese patients with PPS.

Keywords: Cleft lip and palate; IRF6; popliteal pterygium syndrome; van der Woude syndrome

References

  1. Am J Hum Genet. 2014 Jan 2;94(1):23-32 - PubMed
  2. J Med Genet. 2004 Feb;41(2):e15 - PubMed
  3. Nat Genet. 2002 Oct;32(2):285-9 - PubMed
  4. J Med Genet. 1990 May;27(5):320-6 - PubMed
  5. Genet Med. 2009 Apr;11(4):241-7 - PubMed
  6. Eur J Hum Genet. 2001 Oct;9(10):747-52 - PubMed
  7. Am J Med Genet. 1987 Feb;26(2):437-43 - PubMed
  8. J Med Genet. 1999 Dec;36(12):888-92 - PubMed
  9. Am J Med Genet A. 2010 Sep;152A(9):2262-7 - PubMed
  10. Hum Mol Genet. 2009 Feb 1;18(3):535-45 - PubMed

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