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

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

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...

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Bibliographic Details
Main Authors: Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders
Format: Article
Language:English
Published: BMC 2017-11-01
Series:BMC Medical Genetics
Subjects:
PIGN
Developmental disorders
Intellectual disability
GPI deficiency
Seizures
Online Access:http://link.springer.com/article/10.1186/s12881-017-0481-9

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