Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
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
- Urheber
-
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
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1007/s13353-024-00896-7
- URN
-
urn:nbn:de:101:1-2411032101453.609155242074
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:25 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- 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)
Ähnliche Objekte (12)
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
Ochoa, Severo
Ochoa, Severo
Ochoa, Severo
SCN5A-1795insD founder variant: a unique Dutch experience spanning 7 decades
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Chapter V. Founder
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
Ochoa, Severo
Ochoa, Severo
Ochoa, Severo
SCN5A-1795insD founder variant: a unique Dutch experience spanning 7 decades
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Chapter V. Founder
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
Ochoa, Severo
Ochoa, Severo
Ochoa, Severo
SCN5A-1795insD founder variant: a unique Dutch experience spanning 7 decades
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Chapter V. Founder