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ENOculoectodermal Syndrome (OES)
Alias:
Toriello-Lacassie-Droste Syndrome
Aplasia Cutis Congenita with Epibulbar Dermoids
Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome
Oculoectodermal Syndrome, Somatic
Oes
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Oculoectodermal Syndrome, also known as toriello-lacassie-droste syndrome, is related to encephalocraniocutaneous lipomatosis and lipomatosis. An important gene associated with Oculoectodermal Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. Affiliated tissues include skin and pineal, and related phenotypes are agenesis of corpus callosum and aplasia/hypoplasia of the skin
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MALACARDS
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