A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

• প্রধান লেখক: Xiaodan Chen (লেখক), Li Liu (লেখক), Chunhua Zeng (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-04-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. Case presentation This study reported a novel splicing mutation in th...