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

• Main Authors: Shingo Koyama (Author), Hidenori Sato (Author), Manabu Wada (Author), Toru Kawanami (Author), Mitsuru Emi (Author), Takeo Kato (Author)
• Format: Book
• Published: BMC, 2017-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 subty...