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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: wakamatsu n. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. Naiki M, et al. Among authors: wakamatsu n. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105905
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N. Fukushi D, et al. Among authors: wakamatsu n. Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33750005
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. Naiki M, et al. Among authors: wakamatsu n. Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664533
178 results