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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...

詳細記述

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書誌詳細
主要な著者: Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913941/
https://ncbi.nlm.nih.gov/pubmed/20615230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-20
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