Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation

BACKGROUND: Meier-Gorlin syndrome 7 (MGS7) is a rare autosomal recessive condition. We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mutations of CDC45 on chromosome 22 were identified by whole-exome sequencing (WE...

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Detalles Bibliográficos
Autores principales: Li, Xia, Zhang, Lan-Zhen, Yu, Lin, Long, Zhao-Lua, Lin, An-Yun, Gou, Chen-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130261/
https://www.ncbi.nlm.nih.gov/pubmed/34000999
http://dx.doi.org/10.1186/s12884-021-03868-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130261/
https://www.ncbi.nlm.nih.gov/pubmed/34000999
http://dx.doi.org/10.1186/s12884-021-03868-5

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