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

Internet

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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