Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly; clinical implications.
- Idske C L Kremer Hovinga,
- Jacques C Giltay,
- Saskia N van der Crabben,
- Anja Steyls,
- Hetty J van der Kamp,
- Aimee D C Paulussen
Clin Endocrinol (Oxf) 2018 Jun 7. Epub 2018 Jun 7.
Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.
Congenital panhypopituitarism refers to the deficiency of two or more pituitary hormones in the newborn. It is a rare condition of which early recognition is of great importance because of its life threatening potential and its deleterious effects on growth and development. The aetiology remains unsolved in 80-90% of cases. Read More