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Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

Microtia is a congenital malformation characterized by a small, abnormally shaped auricle (pinna) ranging in severity. Congenital heart defect (CHD) is one of the comorbid anomalies with microtia. However, the genetic basis of the co-existence of microtia and CHD remains unclear. Copy number variati...

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Detalles Bibliográficos
Autores principales: Zhu, Caiyun, Yang, Yang, Pan, Bo, Wei, Hui, Ju, Jiahang, Si, Nuo, Xu, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137977/
https://www.ncbi.nlm.nih.gov/pubmed/37107637
http://dx.doi.org/10.3390/genes14040879