De Novo Variation in ARID1B Gene Causes Coffin-Siris Syndrome 1 in a Chinese Family with Excessive Early-Onset High Myopia
May 2024
in “
BMC Medical Genomics
”
Studysummary This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
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