Article
Germline mosacism in Shprintzen-Goldberg syndrome.
American journal of medical genetics. Part A - 1 Jul 2012
Shanske Alan L, Goodrich James T, Ala-Kokko Leena, Baker Stuart, Frederick Barbara, Levy Brynn
Abstract excerpt
We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors...
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