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3‐M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants… Click to show full abstract
3‐M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely CUL7, OBSL1, and CCDC8. Only a few 3‐M syndrome patients have been reported in Chinese population.
Keywords:
two chinese;
chinese families;
cul7 variants;
variants two;
identification two;
two cul7
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
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Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
Link to full text (if available)
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recommendations!