JPHTJuvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
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Approximately 85% of HHT patients [3] have a mutation identified in either ENG (OMIM#187300, HHT1) [4] or ACVRL1 (OMIM#600376, HHT2); [5] and 2% of the HHT families have a mutation identified in the SMAD4 gene, present in HHT in association with juvenile polyposis (OMIM #175050, JPHT).