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Joubert Syndrome and related disorders

8 Jul 2010

Abstract excerpt

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 live births, although these figures may represent an...

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PMID: 20615230
DOI: 10.1186/1750-1172-5-20

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