| 概要 |
ENDOVE syndrome is a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified in patients. EN1 is a gene critical for dorsal-ventral patterning in the limb. It has also been reported that loss-of-function mutations in EN1 result in a recessively inherited combined limb-brain malformation. The patients are with a limb phenotype, and in addition, a severe neurological condition characterized by spasticity, seizures, and complete aplasia of the cerebellum.
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| 著者 |
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schopflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenco CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Butschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafe L, Grote P, Rivolta C, Mundlos S, Superti-Furga A |
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