Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum
Happle-Tinschert syndrome (HTS) and Curry-Jones syndrome (CJS; OMIM 601707) are rare, sporadic, multisystem disorders characterised by hypo- and hyper-pigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities. The Blaschkoid pattern implies mosaicism, and in...
Main Authors: | Lovgren, M, Zhou, Y, Hrčková, G, Dallos, T, Colmenero, I, Twigg, S, Moss, C |
---|---|
Format: | Journal article |
Language: | English |
Published: |
Wiley
2019
|
Similar Items
-
Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum
by: Lovgren, M-L, et al.
Published: (2019) -
Mosaic SMO mutation in a patient with linearbasal follicular hamartomas confirms Happle–Tinschert syndrome as a variant of Curry–Jones syndrome
by: Lovgren, M, et al.
Published: (2018) -
A recurrent mosaic mutation of SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome
by: Twigg, S, et al.
Published: (2016) -
A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
by: Martin Zenker, et al.
Published: (2018-02-01) -
Update on Hedgehog Pathway Inhibitor Therapy for Patients with Basal Cell Naevus Syndrome or High-frequency Basal Cell Carcinoma
by: Babette J.A. Verkouteren, et al.
Published: (2022-06-01)