Document Details

Document Type : Article In Journal 
Document Title :
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
طفرة وراثية تسبق مرحلة تضاعف الحمض النووي و تؤدي اللى متلازمة غورلين-مير
 
Subject : Hereditary Disorders 
Document Language : English 
Abstract : Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears1–3. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities. 
ISSN : 1061-4036 
Journal Name : Nature Genetics 
Volume : 43 
Issue Number : 4 
Publishing Year : 1432 AH
2011 AD 
Article Type : Article 
Added Date : Monday, May 30, 2011 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
جمانة الأعمىAl-Aama, Jumana ResearcherDoctorate 

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