Novel Variants in TNRC6B Cause Global Developmental Delay with Speech and Behavioral Abnormalities, Short Stature, Low Body Weight, Café‐au‐lait Spots, and Metabolic Abnormality
MOLECULAR GENETICS & GENOMIC MEDICINE（2024）
关键词
novel de novo variants,novel phenotype,TNRC6B gene,TNRC6B deficiency syndrome
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