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Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

Christa M de GeusJorieke Elisabertha Hermina BergmanConny M A van Ravenswaaij-ArtsL C Meiners
Published in: AJNR. American journal of neuroradiology (2018)
Most patients with CHARGE syndrome have an abnormal clivus. This suggests that clivus abnormalities may be used as an additional diagnostic tool. Our results provide evidence that CHD7, which is expressed in the presomitic mesoderm during somitogenesis, plays an important role in the formation of the clivus.
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