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Joubert Syndrome and related disorders

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 i...

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Detalles Bibliográficos
Autores principales: Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913941/
https://www.ncbi.nlm.nih.gov/pubmed/20615230
http://dx.doi.org/10.1186/1750-1172-5-20