Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Maria Rita Di Pace (Author), Mario Giuffrè (Author), Giusy Morgante (Author), Ettore Piro (Author), Roberto Pirrello (Author), Sergio Salerno (Author), Ingrid Anne Mandy Schierz (Author), Vincenzo Verde (Author), Giovanni Corsello (Author)
• 格式: 圖書
• 出版: BMC, 2022-12-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located...