A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

BACKGROUND: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically. CASE PRESENTATION: We reported a consangui...

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Detalles Bibliográficos
Autores principales: Chen, Kui, Yang, Ke, Luo, Su-Shan, Chen, Chen, Wang, Ying, Wang, Yi-Xuan, Li, Da-Ke, Yang, Yu-Jie, Tang, Yi-Lin, Liu, Feng-Tao, Wang, Jian, Wu, Jian-Jun, Sun, Yi-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568266/
https://www.ncbi.nlm.nih.gov/pubmed/28830375
http://dx.doi.org/10.1186/s12881-017-0453-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568266/
https://www.ncbi.nlm.nih.gov/pubmed/28830375
http://dx.doi.org/10.1186/s12881-017-0453-0

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