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

• প্রধান লেখক: Gregorio Serra (লেখক), Vincenzo Antona (লেখক), Maria Rita Di Pace (লেখক), Mario Giuffrè (লেখক), Giusy Morgante (লেখক), Ettore Piro (লেখক), Roberto Pirrello (লেখক), Sergio Salerno (লেখক), Ingrid Anne Mandy Schierz (লেখক), Vincenzo Verde (লেখক), Giovanni Corsello (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...