A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome

• Asıl Yazarlar: Sijun Li (Yazar), Mengyao Qin (Yazar), Shuang Mao (Yazar), Lingyun Mei (Yazar), Xinzhang Cai (Yazar), Yong Feng (Yazar), Chufeng He (Yazar), Jian Song (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2022-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and f...