Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

BACKGROUND: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological signs. To...

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發表在:J Transl Med
Main Authors: Domínguez-Ruiz, María, García-Martínez, Alberto, Corral-Juan, Marc, Pérez-Álvarez, Ángel I., Plasencia, Ana M., Villamar, Manuela, Moreno-Pelayo, Miguel A., Matilla-Dueñas, Antoni, Menéndez-González, Manuel, del Castillo, Ignacio
格式: Artigo
語言:Inglês
出版: BioMed Central 2019
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6712801/
https://ncbi.nlm.nih.gov/pubmed/31455392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-019-2041-x
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