Ocular findings in Baraitser–Winter syndrome with a de novo mutation in the ACTG1 gene: a case report
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Ocular findings in Baraitser–Winter syndrome with a de novo mutation in the ACTG1 gene: a case report ; volume:24 ; number:1 ; day:5 ; month:12 ; year:2024 ; pages:1-5 ; date:12.2024
BMC ophthalmology ; 24, Heft 1 (5.12.2024), 1-5, 12.2024
- Creator
-
Kim, Jae Won
Kim, Sook-Young
Lee, Donghun
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12886-024-03791-1
- URN
-
urn:nbn:de:101:1-2502192127537.757954943807
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:33 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kim, Jae Won
- Kim, Sook-Young
- Lee, Donghun
- SpringerLink (Online service)
Other Objects (12)
SPOAN syndrome: a novel mutation and new ocular findings; a case report
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings
Ocular manifestations in Gorlin-Goltz syndrome
Saccadic reaction time and ocular findings in phenylketonuria
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
The ocular fundus : methods of examination and typ. findings
The ocular fundus : from findings to diagnosis ; 23 tables
SPOAN syndrome: a novel mutation and new ocular findings; a case report
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings
Ocular manifestations in Gorlin-Goltz syndrome
Saccadic reaction time and ocular findings in phenylketonuria
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
The ocular fundus : methods of examination and typ. findings
The ocular fundus : from findings to diagnosis ; 23 tables
SPOAN syndrome: a novel mutation and new ocular findings; a case report
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings
Ocular manifestations in Gorlin-Goltz syndrome
Saccadic reaction time and ocular findings in phenylketonuria
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
The ocular fundus : methods of examination and typ. findings