Beckwith-Wiedemann syndrome
All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, distinguishing them from the mutations of CDKN1C that cause Beckwith-Wiedemann syndrome, an overgrowth syndrome.
All IMAGe-associated mutations clustered in the PCNA-binding domain of <span class="gene" id="22634751-6-71-77">CDKN1C</span> and resulted in loss of PCNA binding, distinguishing them from the mutations of <span class="gene" id="22634751-6-158-164">CDKN1C</span> that cause <span class="disease" id="22634751-6-176-203">Beckwith-Wiedemann syndrome</span>, an overgrowth syndrome.