Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder.
Nada T AlzayedAbdullah H AlzuabiReem A AlqusaimiEhab A El-AnanyAbdullah AlholleAshraf H AboelanineSherief OmarRasha AlsafiAlaa A ElmonairyFatemah J AlaliAhmad AlahmadHind AlsharhanButhaina AlbashDana MarafiPublished in: Neurology. Genetics (2024)
variant [c.245C>T:p.(Thr82Met)] testing for infants from affected tribe who present with visual impairment, GDD, and hypotonia.
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