THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.

Abstract excerpt

Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy insulin-dependent diabetes and later onset skeletal dysplasia. Other frequent clinical manifestations are hepatic and renal dysfunction, mental retardation, cardiac...

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