KDM6A Point Mutations Cause Kabuki Syndrome-Reference-Cited by-同舟云学术

KDM6A Point Mutations Cause Kabuki Syndrome

Published:2012-10-17 Issue:1 Volume:34 Page:108-110
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Miyake Noriko¹,Mizuno Seiji²,Okamoto Nobuhiko³,Ohashi Hirofumi⁴,Shiina Masaaki⁵,Ogata Kazuhiro⁵,Tsurusaki Yoshinori¹,Nakashima Mitsuko¹,Saitsu Hirotomo¹,Niikawa Norio⁶,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama; Japan

2. Department of Pediatrics; Central Hospital, Aichi Human Service Center; Kasugai; Japan

3. Division of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi; Japan

4. Division of Medical Genetics; Saitama Children's Medical Center; Iwatsuki; Japan

5. Department of Biochemistry; Yokohama City University Graduate School of Medicine; Yokohama; Japan

6. Research Institute of Personalized Health Sciences; Health Science University of Hokkaido; Hokkaido; Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

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2. Kabuki syndrome and sex chromosomal anomalies: is it really an association?;Bianca;Fertil Steril,2009

3. Three patients with ring (X) chromosomes and a severe phenotype;Dennis;J Med Genet,1993

4. The UTX gene escapes X inactivation in mice and humans;Greenfield;Hum Mol Genet,1998

5. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation;Kuroki;J Pediatr,1981

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