Broadening the phenotype of the TWNK gene associated Perrault syndrome

• প্রধান লেখক: Bálint Fekete (Author), Klára Pentelényi (Author), Gabor Rudas (Author), Anikó Gál (Author), Zoltán Grosz (Author), Anett Illés (Author), Jimoh Idris (Author), Gabor Csukly (Author), Andor Domonkos (Author), Maria Judit Molnar (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2019-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is...