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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications |
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| Authors: | Idske C.L. Kremer Hovinga Jacques C. Giltay Saskia N. van der Crabben Anja Steyls Hetty J. van der Kamp Aimee D.C. Paulussen |
| Affiliation: | 1. Department of Pediatric Endocrinology, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands;2. Department of Genetics, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands;3. Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands |
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