Novel compound heterozygousPIGTmutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

✍ Scribed by Nakashima, Mitsuko; Kashii, Hirofumi; Murakami, Yoshiko; Kato, Mitsuhiro; Tsurusaki, Yoshinori; Miyake, Noriko; Kubota, Masaya; Kinoshita, Taroh; Saitsu, Hirotomo; Matsumoto, Naomichi

• Book ID: 125351420
• Publisher: Springer
• Year: 2014
• Tongue: English
• Weight: 602 KB
• Volume: 15
• Category: Article
• ISSN: 1364-6745
• DOI: 10.1007/s10048-014-0408-y