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Joubert syndrome with cleft palate

Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as polydactyly, retinal abnormalities, renal mal...

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Principais autores: Annavarapu Gopalakrishna, Rajesh Jinka, T S Kumar, Basheer Ahmed Khan, Keyur Mevada
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer Medknow Publications 2014-01-01
Serier:Journal of Cleft Lip Palate and Craniofacial Anomalies
Fag:
jouber syndrome
cleft palate
molar tooth sign
congenital anomaly
autosomal recessive
Online adgang:http://www.jclpca.org/article.asp?issn=2348-2125;year=2014;volume=1;issue=1;spage=59;epage=61;aulast=Gopalakrishna
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