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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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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