HPE
Haploinsufficient mutations in the TG-interacting factor (TGIF) gene were previously identified in a subset of HPE families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in HPE patients.
Haploinsufficient mutations in the TG-interacting factor (<span class="gene" id="16705179-2-58-62">TGIF</span>) gene were previously identified in a subset of <span class="disease" id="16705179-2-111-114">HPE</span> families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in <span class="disease" id="16705179-2-266-269">HPE</span> patients.