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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Vydáno v:J Transl Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup: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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