Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.

× No keyword cloud information.

5 in total

1. Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Authors: Naoto Nishimura; Yumi Enomoto; Tatsuro Kumaki; Hiroaki Murakami; Azusa Ikeda; Tomohide Goto; Kenji Kurosawa
Journal: Mol Syndromol Date: 2022-02-02

2. POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.

Authors: Hitoshi Kashiki; Heng Li; Sachiko Miyamoto; Hiroe Ueno; Yoshinori Tsurusaki; Chizuru Ikeda; Hirofumi Kurata; Takumi Okada; Tomoyuki Shimazu; Hoseki Imamura; Yumi Enomoto; Jun-Ichi Takanashi; Kenji Kurosawa; Hirotomo Saitsu; Ken Inoue
Journal: Neurol Genet Date: 2020-10-13

3. Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.

Authors: Naoto Nishimura; Tatsuro Kumaki; Hiroaki Murakami; Yumi Enomoto; Kaoru Katsumata; Katsuaki Toyoshima; Kenji Kurosawa
Journal: Hum Genome Var Date: 2020-09-25

4. A novel nonsense variant in MED12 associated with malformations in a female fetus.

Authors: Soren Lejsted Faergeman; Naja Becher; Lotte Andreasen; Marianne Christiansen; Lise Frost; Ida Vogel
Journal: Clin Case Rep Date: 2021-12-22

5. Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Authors: Shoko Ikeda; Chika Akamatsu; Akifumi Ijuin; Ami Nagashima; Megumi Sasaki; Akihiko Mochizuki; Hiromi Nagase; Yumi Enomoto; Yukiko Kuroda; Kenji Kurosawa; Hiroshi Ishikawa
Journal: Hum Genome Var Date: 2020-10-02

5 in total