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 , 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199316 | PMC |
| http://dx.doi.org/10.1038/s41439-018-0029-3 | DOI Listing |
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