Article
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Journal of medical genetics - 1 Sept 2013
Simonis Nicolas, Migeotte Isabelle, Lambert Nelle, Perazzolo Camille, de Silva Deepthi C, Dimitrov Boyan, Heinrichs Claudine, Janssens Sandra, Kerr Bronwyn, Mortier Geert, Van Vliet Guy, Lepage Philippe, Casimir Georges, Abramowicz Marc, Smits Guillaume, Vilain Catheline
Abstract excerpt
BACKGROUND: Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key developmental gene...
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