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Sarah E. Seese

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Case report Open access Sep 2026

Guillouet-Gordon Syndrome With Severe Microtia in an Infant With a Homozygous Variant in MED16.

Bi-allelic MED16 variants underlie the recently described MEDopathy termed Guillouet-Gordon syndrome (GGNS, MIM #621220), characterized by neurodevelopmental and structural anomalies. To date, 27 individuals with GGNS have been reported, collectively harboring 28 distinct compound heterozygous or homozygous MED16 varia...

Sarah E. Seese, Linda M. Reis, Allison Genchanok et al. · 0 citations

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