Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1746-1596
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus ; volume:12 ; number:1 ; day:3 ; month:1 ; year:2017 ; pages:1-7 ; date:12.2017
Diagnostic pathology ; 12, Heft 1 (3.1.2017), 1-7, 12.2017
- Keyword
-
Endokrinologie
- Creator
-
Yau, Daphne
- Contributor
-
Franco, Elisa De
Flanagan, Sarah E.
Ellard, Sian
Blumenkrantz, Miriam
Mitchell, John J.
SpringerLink (Online service)
- DOI
-
10.1186/s13000-016-0592-1
- URN
-
urn:nbn:de:1111-201701306193
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:54 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
- Yau, Daphne
- Franco, Elisa De
- Flanagan, Sarah E.
- Ellard, Sian
- Blumenkrantz, Miriam
- Mitchell, John J.
- SpringerLink (Online service)
Other Objects (12)
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Penile Agenesis
Vaginal Agenesis
Lumbosacral agenesis
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family
Management of congenital tracheal agenesis
Pericardial agenesis - the wandering heart
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Penile Agenesis
Vaginal Agenesis
Lumbosacral agenesis
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family
Management of congenital tracheal agenesis
Pericardial agenesis - the wandering heart
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Penile Agenesis
Vaginal Agenesis
Lumbosacral agenesis
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family
Management of congenital tracheal agenesis
Pericardial agenesis - the wandering heart