Ontology highlight
ABSTRACT:
SUBMITTER: Goodman FR
PROVIDER: S-EPMC23843 | biostudies-literature | 1997 Jul
REPOSITORIES: biostudies-literature
Goodman F R FR Mundlos S S Muragaki Y Y Donnai D D Giovannucci-Uzielli M L ML Lapi E E Majewski F F McGaughran J J McKeown C C Reardon W W Upton J J Winter R M RM Olsen B R BR Scambler P J PJ
Proceedings of the National Academy of Sciences of the United States of America 19970701 14
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete penetrance and variable expressivity are common. The condition has recently been shown to be caused by expansions of an imperfect trinucleotide repeat sequence encoding a 15-residue polyalanine tract in HOXD13. We have studied 16 new and 4 previously published SPD families, with between 7 and 14 extra re ...[more]