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Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype

OBJECTIVE: We describe a fetus with a 2.12-Mb terminal deleted fragment in 16q associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) and lymphedema-distichiasis syndrome (LDS) and intend to provide a comprehensive prenatal management strategy for the fetuses with...

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Detalles Bibliográficos
Autores principales:	Wang, Xuezhen, Guo, Lili, Zhang, Bei, Wu, Jiebin, Sun, Yu, Tao, Huimin, Sha, Jing, Zhai, Jingfang, Liu, Min
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632103/ https://www.ncbi.nlm.nih.gov/pubmed/36329475 http://dx.doi.org/10.1186/s13039-022-00627-9

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