2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report ; volume:24 ; number:1 ; day:9 ; month:10 ; year:2024 ; pages:1-12 ; date:12.2024
BMC pediatrics ; 24, Heft 1 (9.10.2024), 1-12, 12.2024
- Urheber
-
Candelo, Estephania
Giraldo-Ocampo, Sebastian
Nevado, Julian
Lapunzina, Pablo
Pachajoa, Harry
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s12887-024-04843-7
- URN
-
urn:nbn:de:101:1-2412262100031.252575775969
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:36 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
- Candelo, Estephania
- Giraldo-Ocampo, Sebastian
- Nevado, Julian
- Lapunzina, Pablo
- Pachajoa, Harry
- SpringerLink (Online service)
Ähnliche Objekte (12)
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Chromosome 15q24 microdeletion syndrome
The MEF2C -Related and 5q14.3q15 Microdeletion Syndrome
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
16p11.2 microdeletion syndrome: a case report
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Chromosome 15q24 microdeletion syndrome
The MEF2C -Related and 5q14.3q15 Microdeletion Syndrome
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
16p11.2 microdeletion syndrome: a case report
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Chromosome 15q24 microdeletion syndrome
The MEF2C -Related and 5q14.3q15 Microdeletion Syndrome
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
16p11.2 microdeletion syndrome: a case report
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome