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

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

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...

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Bibliographic Details
Main Authors: Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato
Format: Article
Language:English
Published: BMC 2017-03-01
Series:BMC Medical Genetics
Subjects:
Case report
Joubert syndrome
NPHP1
Deletion
Hidden Markov model
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-017-0399-2

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