Associated Papers
CDG due to Defective Membrane Transporters: Update.
Quelhas D et al.
Journal of Inherited Metabolic Disease, 2026
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Marshall AE et al.
American Journal of Medical Genetics. Part A, 2024
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Khayat W et al.
Human Molecular Genetics, 2019
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