Experience of Mowat–Wilson syndrome prenatal diagnosis for a Chinese family

Mowat–Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS‐related organs during prenatal ultrasound scan is described which is extremely i...

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Detalles Bibliográficos
Autores principales: Jiang, Qian, Zhang, Xiaoxiao, Ma, Yinan, Li, Qi, Zheng, Chunhua, Yan, Yuchun, Zhang, Zhen, Xiao, Ping, Su, Lin, Cheng, Wei, Pan, Hong, Li, Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224777/
https://www.ncbi.nlm.nih.gov/pubmed/28096981
http://dx.doi.org/10.1002/ccr3.741
Descripción
Sumario:Mowat–Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS‐related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.

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