A novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

Abstract Osteopathia striata with cranial sclerosis (OSCS) (MIM #300373) is a rare X‐linked dominant bone dysplasia characterized by cranial sclerosis and linear striations in the long bones of females, and fetal or neonatal lethality in affected males.
Source: Congenital Anomalies - Category: Genetics & Stem Cells Authors: Tags: Note Source Type: research