What is it about?
Clinical and molecular characterization of C syndrome as member of the group "Ciliopathies"
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Why is it important?
To understand the molecular and genetics basis of the entity
Perspectives
New exciting data about ciliopathies and C syndrome and their heterogeneous etiology
Dr Christian Peña-Padilla
Universidad de Guadalajara
Read the Original
This page is a summary of: Compound heterozygous mutations in theIFT140gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy, Clinical Genetics, February 2017, Wiley,
DOI: 10.1111/cge.12924.
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