Expanding MAPT p.V363I Mutation Phenotype: An Overlapping of PSP‐CBS and Posterior Cortical Atrophy
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13671
Abstract: Mutations in the microtubule-associated protein tau gene ( MAPT ) are associated with heterogeneous clinical and patholog-ical manifestations read more here.
Keywords: mapt v363i; expanding mapt; phenotype overlapping; v363i mutation ... See more keywords
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