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Published in 2021 at "Human Genetics"
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,…
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Keywords:
causes phenotype;
doors syndrome;
deficiency causes;
pigf deficiency ... See more keywords