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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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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: He, Xue, Shen, Huijun, Fu, Haidong, Feng, Chunyue, Liu, Zhixia, Jin, Yanyan, Mao, Jianhua
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7330938/
https://ncbi.nlm.nih.gov/pubmed/32616040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02205-7
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