Novel ift122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 2, 2014, Pages 103-106

  Alazami, Anas M ^a   Seidahmed, Mohammed Zain ^b   Alzahrani, Fatema ^a   Mohammed, Adam O ^c   Alkuraya, Fowzan S ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b SECURITY FORCES HOSPITAL   (Saudi Arabia)

^c Department of Internal Medicine   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Ciliopathy; Craniosynostosis; Intraflagellar transport

Indexed keywords

EID: 84951785678     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.44     Document Type: Article

References (12)

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11. Tsurusaki, Y., R. Yonezawa, M. Furuya, G. Nishimura, R. Pooh, M. Nakashima, et al. 2013. Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Clin. Genet. [Epub ahead of print].
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