PIGF deficiency causes a phenotype overlapping with DOORS syndrome
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DOI: 10.1007/s00439-020-02251-2
Abstract: DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G,… read more here.
Keywords: causes phenotype; doors syndrome; deficiency causes; pigf deficiency ... See more keywords
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene
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DOI: 10.3389/fneur.2020.00767
Abstract: DOORS [deafness, onychodystrophy, osteodystrophy, intellectual disability (mental retardation), and seizures] syndrome can be caused by mutations in the TBC1D24 and ATP6V1B2 genes, both of which are involved in endolysosomal function. Because of its extreme rarity,… read more here.
Keywords: doors syndrome; mutation atp6v1b2; clinicopathological relationships; atp6v1b2 gene ... See more keywords