Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
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T. Haaf | H. Engels | U. Zechner | K. Haug | O. Bartsch | K. Gebauer | N. Kohlschmidt | O. Kempf