105 research outputs found
âThatâs not what you expect to do as a doctor, you know, you donât expect your patients to die.â Death as a learning experience for undergraduate medical students
MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/
aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the
âmolar tooth signâ, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs
The Neotethyan SanandajâSirjan zone of Iran as an archetype for passive marginâarc transitions
Preliminary report on Lower Jurassic radiolaria of Gondwana origin from the Kawhia coast, New Zealand
Early Cretaceous tectonic events implied in the time-lag between the age of radiolarian chert and its metamorphic basement in the Bantimala area, South Sulawesi, Indonesia
Off-scraped Permian-Jurassic bedded chert thrust on Jurassic-early Cretaceous accretionary prism: Radiolarian evidence from le Island, central Ryukyu Island Arc
Jurassic radiolarians and age of cherty rocks in the Povorotnyi Cape, the Taigonos Peninsula (northeast Russia)
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