دورية أكاديمية
Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin
| العنوان: | Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin |
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| المؤلفون: | Del Valle-Peréz, Manuela, Mejía-García, Alejandro, Echeverri-López, Dayana, Gallo-Bonilla, Katherine, Tejada-Moreno, Johanna A., Villegas‑Lanau, Andrés, Chvatal-Medina, Mateo, Restrepo, Jorge E., Cuartas-Montoya, Gina, Zapata-Builes, WildemanAff1, Aff3, IDs13353024008967_cor10 |
| المصدر: | Journal of Applied Genetics. :1-10 |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 12341983 21903883 |
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| DOI: | 10.1007/s13353-024-00896-7 |