Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1682
Abstract: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrainâhindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However,… read more here.
Keywords: variability joubert; joubert syndrome; heterogeneity intrafamilial; clinical heterogeneity ... See more keywords
Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1709695
Abstract: Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic… read more here.
Keywords: novel mutations; charcot marie; mutations involved; marie tooth ... See more keywords
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1301967
Abstract: ABSTRACT Background: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous.Materials and… read more here.
Keywords: variability syndromic; microphthalmia; syndromic microphthalmia; intrafamilial variability ... See more keywords