Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM16

Autor: R.Zeevaert, F.De Zegher, L.Sturiale, D.Garozzo, M.Smet, M.Moens, G.Matthijs, J. Jaeken

Publikováno v: JIMD Reports-Case and Research Reports, 2012/5, pp. 145–152, 2013
info:cnr-pdr/source/autori:R.Zeevaert,F.De Zegher, L.Sturiale, D.Garozzo, M.Smet, M.Moens, G.Matthijs, J. Jaeken/titolo:Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM16/titolo_volume:JIMD Reports-Case and Research Reports, 2012%2F5/curatori_volume:/editore:/anno:2013

Three patients belonging to two families presented with a psychomotor-dysmorphism syndrome including postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Other features were muscular hypotrophy, fat excess, par

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https://publications.cnr.it/doc/215378