Article
Growth hormone deficiency in one of two siblings with Fanconi's anaemia complementation group FA-D.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Oct 2000
Schoof E, Beck J D, Joenje H, Doerr H G
Abstract excerpt
Fanconi's anaemia (FA) shows great variability in phenotypic symptoms. We report on two FA siblings of German ancestry with the very rare form of the complementation group FA-D. Both presented with a similar phenotype and mild disease severity but with different growth. In the sister, growth velocity was normal, puberty and menarche occurred spontaneously. Her final height was within her parental target height....
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