Happle-Tinschert syndrome

MONDO:1030006

Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234C>T, p.Leu412Phe).

Also known as: HTS

0 clinical trials for this condition and its sub-types, 0 tagged with Happle-Tinschert syndrome itself.

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↑ Mosaic SMO syndrome (0)

Including sub-types (0) Tagged with Happle-Tinschert syndrome (0)

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