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Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
Egyptian Journal of Medical Human Genetics Pub Date : 2024-03-27 , DOI: 10.1186/s43042-024-00517-2
Yalda Zhoulideh , Jamil Joolideh

Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.

中文翻译:

莫瓦特-威尔逊综合征:阐明诊断、治疗和症状管理的复杂性

莫瓦特-威尔逊综合征可以说是最严重且同时也是罕见的遗传异常之一。这种疾病的遗传模式是常染色体显性遗传模式。在这种疾病中,ZEB2 基因变得异常。该疾病的严重程度和相关体征和症状可能差异很大,但可能包括独特的面部特征、发育迟缓、智力障碍和先天性巨结肠。 MWS 治疗可能会根据每个人出现的具体症状而有所不同。本综述将探讨与该疾病相关的基因、表型、临床表现、诊断方法和治疗方法。
更新日期:2024-03-27
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