Publications

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McVeigh TP, Banka S, Reardon W. "Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract
McMahon CJ, Reardon W. "The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome." Cardiol Young. 2006;16(1):30-3. Abstract
McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. "Ring chromosome X in a child with manifestations of Kabuki syndrome." Am. J. Med. Genet.. 1997;70(1):37-42. Abstract
McGaughran JM, Donnai D, Clayton-Smith J. "Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
Mazzanti L, Tamburrino F, Bergamaschi R, et al. "Developmental syndromes: growth hormone deficiency and treatment." Endocr Dev. 2009;14:114-34. Abstract
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. "Craniofacial and dental characteristics of Kabuki syndrome." Am. J. Med. Genet.. 2001;98(2):185-90. Abstract
Matsumura M, Yamada R, Kitani Y, et al. "Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract
Matsumoto N, Niikawa N. "Kabuki make-up syndrome: a review." American journal of medical genetics. Part C, Seminars in medical genetics. 2003;117C(1):57-65. Abstract
Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro M-J, López-Guerrero AL, Pérez-Espejo MA. "Craniosynostosis in Kabuki syndrome." J Neurosurg Pediatr. 2010;6(2):198-201. Abstract
Margot H, Geneviève D, Gatinois V, et al. "Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
Makrythanasis P, van Bon BW, Steehouwer M, et al. "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study." Clin. Genet.. 2013. Abstract
Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. "Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract
Maas NMC, Van de Putte T, Melotte C, et al. "The C20orf133 gene is disrupted in a patient with Kabuki syndrome." J. Med. Genet.. 2007;44(9):562-9. Abstract
Ma KH, Chow SN, Yau FT. "Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome." J. Pediatr. Endocrinol. Metab.. 2005;18(6):607-9. Abstract