Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inher...

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Detalles Bibliográficos
Autores principales: Zhou, Yaqing, Quan, Yan, Wu, Yijun, Zhang, Yinxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478714/
https://www.ncbi.nlm.nih.gov/pubmed/36113068
http://dx.doi.org/10.1177/03000605221121955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478714/
https://www.ncbi.nlm.nih.gov/pubmed/36113068
http://dx.doi.org/10.1177/03000605221121955

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