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- Title
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
- Authors
Kremer Hovinga, Idske C. L.; Giltay, Jacques C.; van der Crabben, Saskia N.; Steyls, Anja; van der Kamp, Hetty J.; Paulussen, Aimee D. C.
- Abstract
The article presents a case study regarding extreme phenotypic variability of a novel GLI2 mutation in a family with panhypopituitarism and polydactyly. Topics discussed include observation of ectopic posterior pituitary lobe and hypoplastic anterior pituitary, using magnetic resonance imaging (MRI); importance of clinicians being aware of extrapituitary features that may relate to panhypopituitarism and predigree of the family including clinical features and results of GLI2 mutation screening.
- Subjects
GENETIC mutation; POLYDACTYLY; MAGNETIC resonance imaging; NEUROHYPOPHYSIS; ANTERIOR pituitary gland
- Publication
Clinical Endocrinology, 2018, Vol 89, Issue 3, p378
- ISSN
0300-0664
- Publication type
Case Study
- DOI
10.1111/cen.13760