In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 5, No. 1 ( 2018-10-23)
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.
Type of Medium:
Online Resource
ISSN:
2054-345X
DOI:
10.1038/s41439-018-0029-3
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2018
detail.hit.zdb_id:
2863697-1
