A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features-Reference-Cited by-同舟云学术

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Published:2019-04-02 Issue:1 Volume:6 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Murata Yuka,Kurosaka Hiroshi,Ohata Yasuhisa,Aikawa Tomonao,Takahata Sosuke,Fujii Katsunori,Miyashita Toshiyuki,Morita Chisato,Inubushi Toshihiro,Kubota Takuo,Sakai Norio,Ozono Keiichi,Kogo Mikihiko,Yamashiro Takashi

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-019-0047-9.pdf

Reference20 articles.

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2. Evans, D. G. et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am. J. Med. Genet. A 152A, 327–332 (2010).

3. Kiwilsza, M. & Sporniak-Tutak, K. Gorlin-Goltz syndrome—a medical condition requiring a multidisciplinary approach. Med. Sci. Monit. 18, RA145–RA153 (2012).

4. Johnson, R. L. et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272, 1668–1671 (1996).

5. Smyth, I. et al. Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. Hum. Mol. Genet. 8, 291–297 (1999).

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