Clinical features and<i><scp>WNT</scp>10A</i>mutations in seven unrelated cases of Schöpf–Schulz–Passarge syndrome

Abstract

This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.