Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Kempers, M.J.E.; Crabben, S.N. van der; Vroede, M. de; Alfen-van der Velden, J.; Netea-Maier, R.T.; Duim, R.A.J.; ... ; Wit, J.M. (2013)

Article / Letter to editor

• Congenital isolated growth hormone deficiency
• GH1 gene
• Splice site mutations
• Growth hormone

• All authors: Kempers, M.J.E.; Crabben, S.N. van der; Vroede, M. de; Alfen-van der Velden, J.; Netea-Maier, R.T.; Duim, R.A.J.; Otten, B.J.; Losekoot, M.; Wit, J.M.
• Date: 2013-12-31
• Journal: Hormone Research in Paediatrics
• Volume: 80
• Issue: 6
• Pages: 390 - 396
• DOI: doi:10.1159/000355403