Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6

Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6

The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth retardation: weight 1600 g (–4.3 SDS) at term. After birth, foramen ovale and patent...

Full description

Bibliographic Details
Main Authors: Radka Savova, Elisa De Franco, Charles Shaw-Smith, Ralitza Georgieva, Maia Konstantinova, Margarita Archinkova, Emilia Panteleeva, Anna Kaneva, Rumen Marinov, Sian Ellard, Andrew Hattersley
Format: Article
Language:English
Published: Taylor & Francis Group 2018-01-01
Series:Biotechnology & Biotechnological Equipment
Subjects:
Permanent neonatal diabetes mellitus
pancreatic agenesis
pancreatic hypoplasia
GATA 6
congenital cardiac defects
patent ductus arteriosus
Online Access:http://dx.doi.org/10.1080/13102818.2017.1400402

Similar Items

Similar Items