Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

RT @medical_xpress: First study to directly compare gene mutation type in individuals with CHAMP1 disorder indicates key differences @mount…

Thank you @MountSinaiNYC our community appreciate your effort on research about CHAMP1 rare disorder

👩🏻‍🔬New research led by the Seaver Autism Center for Research The Mount Sinai Hospital at @MountSinaiNYC has illuminated genetic differences among children with a rare neurodevelopmental condition: CHAMP1. 📰 Read the full article in @SpringerNature h

RT @medical_xpress: First study to directly compare gene mutation type in individuals with CHAMP1 disorder indicates key differences @mount…