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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Short Syndrome[original query]
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Human genetics 2011 Oct 130 (4): 495-504.
Reis Linda M, Tyler Rebecca C, Schilter Kala F, Abdul-Rahman Omar, Innis Jeffrey W, Kozel Beth A, Schneider Adele S, Bardakjian Tanya M, Lose Edward J, Martin Donna M, Broeckel Ulrich, Semina Elena
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Clinical epigenetics 2020 6 12 (1): 86.
Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa
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