Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
Abstract Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old boy was diagnosed with Joubert syndr...
Main Authors: | , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-10-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-01130-x |