Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum-Reference-Cited by-同舟云学术

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

Published:2019-05-23 Issue: Volume: Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Lovgren M.‐L.¹^ORCID,Zhou Y.²,Hrčková G.³,Dallos T.³,Colmenero I.⁴,Twigg S.R.F.²,Moss C.¹

Affiliation:

1. Department of Dermatology Birmingham Children's Hospital Birmingham Women's and Children's NHS Foundation Trust Birmingham U.K

2. Clinical Genetics Group MRC Weatherall Institute of Molecular Medicine University of Oxford John Radcliffe Hospital Oxford U.K

3. Department of Paediatrics Faculty of Medicine Comenius University in Bratislava and National Institute of Children's Diseases Bratislava Slovak Republic

4. Department of Pathology Birmingham Children's Hospital Birmingham Women's and Children's NHS Foundation Trust Birmingham U.K

Funder

Wellcome Trust

Action Medical Research

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.18150

Reference15 articles.

1. A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry–Jones syndrome;Twigg SRF;Am J Hum Genet,2016

2. A postzygotic SMO mutation caused the original case of Happle‐Tinschert syndrome;Zenker M;Acta Derm Venereol,2018

3. Mosaic SMO mutation in a patient with linear basal follicular hamartomas confirms Happle‐Tinschert syndrome as a variant of Curry‐Jones syndrome;Lovgren M‐L;Br J Dermatol,2018

4. Happle‐Tinschert syndrome: two cases with clues to the pathogenesis;Kwok C;Br J Dermatol,2012

5. Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development – the Curry Jones syndrome;Temple IK;Clin Dysmorphol,1995

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