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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
D. Misceo, O.K. Rødningen, T. Barøy, H. Sorte, J.R. Mellembakken, P. Strømme, M. Fannemel, E. FrengenVolume:
155
Year:
2011
Language:
english
Pages:
6
DOI:
10.1002/ajmg.a.33798
File:
PDF, 581 KB
english, 2011