Disease

Ectrodactyly

About the Disease
Isolated Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and ankyloblepharon-ectodermal defects-cleft lip/palate. An important gene associated with Isolated Split Hand-Split Foot Malformation is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways are Signaling by WNT and MECP2 and associated Rett syndrome. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are oligodactyly and finger syndactyly

Common Targets
FGFR1

疾病靶点研报
Ectrodactyly

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