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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Detalhes bibliográficos

Principais autores:	Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2017-11-01
coleção:	BMC Medical Genetics
Assuntos:	PIGN Developmental disorders Intellectual disability GPI deficiency Seizures
Acesso em linha:	http://link.springer.com/article/10.1186/s12881-017-0481-9
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