Article
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Public health genomics - 1 Jan 2017
Dehghani MohammadReza, Mojarad Majid, Ghayoor Karimiani Ehsan, Vahidi Mehrjardi Mohammad Yahya, Sahebalzamani Afsaneh, Ashrafzadeh Farah, Beiraghi Toosi Mehran, Eslahi Atiyeh, Ahangari Najmeh, Yassini Seyed Mojtaba, Hassanbeigi Afsaneh, Rasti Azam, Kalantar Seyed Mehdi, Maroofian Reza
Abstract excerpt
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing...
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