Ontology highlight
ABSTRACT:
SUBMITTER: Ohara Y
PROVIDER: S-EPMC6626997 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Ohara Yasuko Y Okada Yuko Y Yamada Tomoko T Sugawara Kenji K Kanatani Masayuki M Fukuoka Hidenori H Hirota Yushi Y Maeda Takaki T Morisada Naoya N Iijima Kazumoto K Ogawa Wataru W
Journal of diabetes investigation 20190215 4
Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profo ...[more]