Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin ; day:16 ; month:8 ; year:2024 ; pages:1-10
Journal of applied genetics ; (16.8.2024), 1-10

Creator: Valle-Peréz, Manuela Del
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, Wildeman

Contributor: SpringerLink (Online service)

DOI: 10.1007/s13353-024-00896-7

URN: urn:nbn:de:101:1-2411032101453.609155242074

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:25 AM CEST

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Valle-Peréz, Manuela Del
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, Wildeman
SpringerLink (Online service)

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Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin

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