Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families

• Asıl Yazarlar: Qiang Du (Yazar), Yike Zhang (Yazar), Rujian Hong (Yazar), Nuermaimaiti Tulamaiti (Yazar), Maiheba Abulaiti (Yazar), Nueraili Awuti (Yazar), Wulamu Wusiman (Yazar), Xirinayi Alimu (Yazar), Ayinuer Wusiman (Yazar), Nueraihaimaiti Kadier (Yazar), Huilin Li (Yazar), Zhifei Zhang (Yazar), Huan Qi (Yazar), Zhipeng Xia (Yazar), Ayituersun Abudukeyoumu (Yazar), Huawei Li (Yazar), Luo Guo (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2024-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Over 700 syndromes associated with hearing loss (HL) have been identified. Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome, OMIM: 610706) is a rare HL syndrome characterized by congenital sensorineural HL, labyrinthine aplasia, type I microtia and microdontia, which is caused...