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Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report

RATIONALE: Pseudovaginal perineoscrotal hypospadias (PPSH) is a rare autosomal recessive disorder of sex development caused by biallelic mutations in SRD5A2. PPSH is characterized by a vaginal-like blind ending perineal opening, penoscrotal hypospadias, and impaired masculinization. PATIENT CONCERNS...

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Detalles Bibliográficos
Autores principales:	Chen, Jiayao, Zhang, Zhiping, Shi, Wenjing, Yan, Qin, Bi, Xingyu, Zhu, Pengfei, Zhang, Dongdong, Wu, Xueqing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659598/ https://www.ncbi.nlm.nih.gov/pubmed/37986304 http://dx.doi.org/10.1097/MD.0000000000036171

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