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Page 1
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Kanai Y, Takahashi H, Hasegawa F, Hori A, Suzuki H, Takahashi S, Fukushima H, Takada H, Horie K, Ozawa K, Furukawa R, Kosaki K, Hata K. Kanai Y, et al. Among authors: kosaki k. Am J Med Genet A. 2025 Feb;197(2):e63884. doi: 10.1002/ajmg.a.63884. Epub 2024 Sep 26. Am J Med Genet A. 2025. PMID: 39324487
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.
Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.
Takenouchi T, Sakamoto Y, Torii C, Hata K, Kosaki R, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2015 Apr;167A(4):907-9. doi: 10.1002/ajmg.a.36947. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25737399 No abstract available.
Novel MCA/ID syndrome with ASH1L mutation.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kosaki k. Am J Med Genet A. 2017 Jun;173(6):1644-1648. doi: 10.1002/ajmg.a.38193. Epub 2017 Apr 10. Am J Med Genet A. 2017. PMID: 28394464
Expansion of the phenotype of Kosaki overgrowth syndrome.
Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Minatogawa M, et al. Among authors: kosaki k. Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22. Am J Med Genet A. 2017. PMID: 28639748
539 results