نتایج جستجو برای: ciliopathy
تعداد نتایج: 423 فیلتر نتایج به سال:
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
BACKGROUND Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectr...
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The ciliopathies form a class of genetic diseases whose aetiology lies in the primary cilium. Over 30 genes have been identified as mutant in ciliopathies and their proteins localise at the primary cilium. When mutated they can cause kidney disease, obesity, polydactyly, an...
BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...
Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each othe...
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