Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip

OBJECTIVE: To analyze the genotypes and phenotypes of a child with developmental dysplasia of the hip (DDH), developmental delays, recurrent fever, hypothyroidism and cleft palate. METHODS: G-banding karyotyping analysis and next-generation sequencing (NGS) were performed for the patient. The genoty...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Shufeng, Wang, Caixia, Lei, Ke, Leng, Xuefei, Zhang, Lijuan, Tian, Fei, Chen, Zhihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484224/
https://www.ncbi.nlm.nih.gov/pubmed/36123715
http://dx.doi.org/10.1186/s12920-022-01345-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484224/
https://www.ncbi.nlm.nih.gov/pubmed/36123715
http://dx.doi.org/10.1186/s12920-022-01345-2

Ejemplares similares