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.
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Authors | Tomozumi Takatani, Tadashi Shiohama, Rieko Takatani, Naoki Shimojo |
Journal | Human genome variation
(Hum Genome Var)
Vol. 5
Pg. 30
( 2018)
ISSN: 2054-345X [Print] England |
PMID | 30374406
(Publication Type: Case Reports)
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