Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing
CLINICAL GENETICS（2025）
Key words
arthrogryposis multiplex congenita (AMC),CNS malformations,fetal phenotyping,prenatal ES,renal anomalies,SENP7,SUMO protease,SUMOylation
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