The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the “molar tooth sign” [MTS] on axial magnetic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movem...

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Main Authors: Parisi, Melissa A., Bennett, Craig L., Eckert, Melissa L., Dobyns, William B., Gleeson, Joseph G., Shaw, Dennis W. W., McDonald, Ruth, Eddy, Allison, Chance, Phillip F., Glass, Ian A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182011/
https://ncbi.nlm.nih.gov/pubmed/15138899
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