MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1602833
Abstract: 3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional variants in the SERAC1 gene was later reported… read more here.
Keywords: new mutations; phenotype new; syndrome expanding; megdel syndrome ... See more keywords
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000308
Abstract: Introduction Russell-Silver syndrome (RSS, OMIM 180860) is a prenatal-onset growth insufficiency syndrome characterized by intrauterine growth restriction, postnatal growth failure, relative macrocephaly, frontal bossing, asymmetry, and feeding difficulty (Silver et al., 1953; Russell, 1954; Wakeling… read more here.
Keywords: absent digit; silver syndrome; russell silver; syndrome expanding ... See more keywords