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- W2896919794 abstract "Abstract 3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7 , the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype–genotype correlations in 3M syndrome, including correlations relevant to growth hormone response." @default.
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- W2896919794 date "2018-10-23" @default.
- W2896919794 modified "2023-10-12" @default.
- W2896919794 title "A novel CUL7 mutation in a Japanese patient with 3M syndrome" @default.
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- W2896919794 doi "https://doi.org/10.1038/s41439-018-0029-3" @default.
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