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Happle-Tinschert syndrome
rareHapple-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).
- Identifiers
- MONDO:1030006
- Part of
- Mosaic SMO syndrome
- Also known as
- HTS
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