Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

• Main Authors: Isabelle Thiffault (Author), Britton Zuccarelli (Author), Holly Welsh (Author), Xuan Yuan (Author), Emily Farrow (Author), Lee Zellmer (Author), Neil Miller (Author), Sarah Soden (Author), Ahmed Abdelmoity (Author), Robert A. Brodsky (Author), Carol Saunders (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, development...