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Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review

BACKGROUND: 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosi...

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Detalles Bibliográficos
Autores principales: He, Xue, Shen, Huijun, Fu, Haidong, Feng, Chunyue, Liu, Zhixia, Jin, Yanyan, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330938/
https://www.ncbi.nlm.nih.gov/pubmed/32616040
http://dx.doi.org/10.1186/s12887-020-02205-7