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

Autor: 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.

Publikováno v: Hormone Research in Paediatrics, 80, 6, pp. 390-6
Hormone Research in Paediatrics, 80, 390-6
Hormone Research in Paediatrics, 80(6), 390-396

Item does not contain fulltext BACKGROUND: Congenital isolated growth hormone deficiency (IGHD) is a rare endocrine disorder that presents with severe proportionate growth failure. Dominant (type II) IGHD is usually caused by heterozygous mutations o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8a8f7828d30dbcaf29c6d9faab92c4ab
https://hdl.handle.net/1887/99875

Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma

Autor: Romeo, S., Duim, R.A.J., Bridge, J.A., Mertens, F., Jong, D. de, Cin, P. dal, Wijers-Koster, P.M., Debiec-Rychter, M., Sciot, R., Rosenberg, A., Szuhai, K., Hogendoorn, P.C.W.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0c0c4297a8eaa9ae207c50897c3636b3
https://hdl.handle.net/1887/111470

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

Autor: Kempers, M.J.E., van der Crabben, S.N., de Vroede, M., alfen-van der Velden, J., Netea-Maier, R.T., Duim, R.a.J., Otten, B.J., Losekoot, M., Wit, J.M.

Publikováno v: Hormone Research in Paediatrics; Jan2014, Vol. 80 Issue 6, p390-396, 7p, 1 Diagram, 2 Charts

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