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Article

[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2017

Meng C, Zhang K H, Ma J, Gao X, Yu K, Zhang H Y, Wang Y, Zhang Z X, Li W G, Liu Y, Gai Z T

Abstract excerpt

Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such...

Topics

Cerebellar Diseases
China
Genetic Diseases, X-Linked
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Infant
Magnetic Resonance Imaging
Male
Muscle Hypotonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Proteins

Sequence Deletion

Source

Identifiers

PMID: 28173652
DOI: 10.3760/cma.j.issn.0578-1310.2017.02.015

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