نتایج جستجو برای: taybi syndrome

تعداد نتایج: 621935  

Journal: :Neuron 2004
Kelsey C Martin Yi E Sun

Long-lasting memories are known to require new transcription. Recent studies have highlighted a role for epigenetic alterations, including histone acetylation, in regulating gene expression. In this issue of Neuron, Alarcón et al. and Korzus et al. use two different mouse models of Rubinstein-Taybi syndrome to elucidate a role for the histone acetyltransferase activity of CREB binding protein (...

Journal: :Archives of Disease in Childhood 1968

Journal: :Clinical genetics 2016
A Putoux A Alqahtani L Pinson A D C Paulussen J Michel A Besson S Mazoyer I Borg S Nampoothiri A Vasiljevic A Uwineza D Boggio F Champion C E de Die-Smulders T Gardeitchik W K van Putten M J Perez Y Musizzano F Razavi S Drunat A Verloes R Hennekam L Guibaud E Alix D Sanlaville G Lesca P Edery

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nucle...

2015
Asli Subasioglu Selcuk Savas Ebru Kucukyilmaz Servet Kesim Ahmet Yagci Munis Dundar

Supernumerary teeth (ST) are odontostomatologic anomaly characterized by as the existence excessive number of teeth in relation to the normal dental formula. This condition is commonly seen with several congenital genetic disorders such as Gardner's syndrome, cleidocranial dysostosis and cleft lip and palate. Less common syndromes that are associated with ST are; Fabry Disease, Ellis-van Crevel...

Journal: :International Journal of Research in Medical Sciences 2017

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