Lucia Belen Musumano1, Virginia Fancello1, Laura Negossi1

  • 1ENT and Audiology Clinic, Department of Neuroscience and Rehabilitation, University Hospital of Ferrara, Ferrara, Italy.

概括

怀特·萨顿综合征是一种罕见的遗传性疾病,可以导致听力神经病变谱系障碍,一种特定类型的听力损失. 早期的听力学评估对于确切的诊断和治疗受影响个体至关重要.

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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