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

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, developmental delay...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Autores principales: Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5668960/
https://ncbi.nlm.nih.gov/pubmed/29096607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0481-9
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