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Paper Details

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Am J Med Genet A
6
2020
Malan syndrome, Marshall-Smith syndrome, NFIX, NFIX gene, autosomal recessive syndrome, blood, dysmorphic features, intellectual disability, macrocephaly, midface retrusion, overgrowth, patients, prominent forehead, scoliosis, strabismus
Author NameAffiliation
Nicole de LeeuwDonders Institute for Brain, Radboud University Medical Center
Sultana M H FaradzCenter for Biomedical Research (CEBIOR), Diponegoro University
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