A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

BACKGROUND: With the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype–phenotype correlations in intrauterine-onset disorders have substantially improved. The BMP2 gene, located on the long arm of chromosome 2...

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Detalles Bibliográficos
Autores principales: Chen, Guangquan, Xiong, Shiyi, Zou, Gang, Wu, Fengyu, Qu, Xiaoxing, Alawbathani, Salem, Sun, Luming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8887085/
https://www.ncbi.nlm.nih.gov/pubmed/35227291
http://dx.doi.org/10.1186/s13039-022-00584-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8887085/
https://www.ncbi.nlm.nih.gov/pubmed/35227291
http://dx.doi.org/10.1186/s13039-022-00584-3

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