Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

BACKGROUND: Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign. JSRD is classified into six clinical subtypes base...

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Detalles Bibliográficos
Autores principales: Koyama, Shingo, Sato, Hidenori, Wada, Manabu, Kawanami, Toru, Emi, Mitsuru, Kato, Takeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368915/
https://www.ncbi.nlm.nih.gov/pubmed/28347285
http://dx.doi.org/10.1186/s12881-017-0399-2

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