Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum

SUMMARY: Happle–Tinschert syndrome (HTS) and Curry–Jones syndrome (CJS; OMIM 601707) are rare, sporadic, multisystem disorders characterized by hypo‐ and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities. The blaschkoid pattern implies mosaicism...

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Detalles Bibliográficos
Autores principales: Lovgren, M.‐L., Zhou, Y., Hrčková, G., Dallos, T., Colmenero, I., Twigg, S.R.F., Moss, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972552/
https://www.ncbi.nlm.nih.gov/pubmed/31120550
http://dx.doi.org/10.1111/bjd.18150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972552/
https://www.ncbi.nlm.nih.gov/pubmed/31120550
http://dx.doi.org/10.1111/bjd.18150

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