Growth Topics in FGFR3-Related Skeletal Dysplasias
Sign Up to like & getrecommendations! Published in 2021 at "Current Treatment Options in Pediatrics"
DOI: 10.1007/s40746-021-00222-x
Abstract: Purpose of Review Describe growth at different periods of life to understand the effects of genetic impairment in FGFR3- related conditions. We hope this data will be used to compare different populations and the effects… read more here.
Keywords: topics fgfr3; fgfr3 related; related skeletal; growth topics ... See more keywords
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000373
Abstract: KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facial-digital syndromes. We describe a ninth case that expands the phenotype; a 10-year-old girl… read more here.
Keywords: phenotype; case; related skeletal; kiaa0753 related ... See more keywords