Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

Zhao, Jue; Yang, Liwei

Zhao, Jue; Yang, Liwei.

Affiliation

Zhao J; Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.
Yang L; Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.

J Clin Lab Anal ; 34(9): e23426, 2020 Sep.

Article in En | MEDLINE | ID: mdl-32537850

Subject(s)

Mandibulofacial Dysostosis; DNA Mutational Analysis; Fatal Outcome; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Male; Mandibulofacial Dysostosis/diagnosis; Mandibulofacial Dysostosis/genetics; Mandibulofacial Dysostosis/pathology; RNA Splicing Factors/genetics

Key words

Nager syndrome; SF3B4 mutation; Treacher collins syndrome; acrofacial dysostosis; next-generation sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mandibulofacial Dysostosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: J Clin Lab Anal Journal subject: TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2020 Document type: Article Affiliation country: China Country of publication: United States

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