Litcius/Paper detail

A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy

Soo Yeon Kim, Man Jin Kim, Su Jin Kim, Ji Eun Lee, Jong‐Hee Chae, Jung Min Ko

2020Brain and Development13 citationsDOI

Topics & Concepts

MedicineShort statureMissense mutationEtiologyMoyamoya diseasePediatricsAsymptomaticDiseaseInternal medicinePhenotypeGeneticsGeneBiologyMoyamoya disease diagnosis and treatmentConnective tissue disorders researchRNA regulation and disease