| 1 | BCNS, PTCH2
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| Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
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| Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T.
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| Fam Cancer 12(4):611-4. doi: 10.1007/s10689-013-9623-1.
2013
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| 2 | BCNS, DEL9Q22, PTCH1
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| Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
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| Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.
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| Am J Med Genet A 158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21. 2012
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| 3 | BCNS, PTCH2
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| A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
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| Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S.
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| J Med Genet 45(5):303-8. doi: 10.1136/jmg.2007.055343. Epub 2008 Feb 19.
2008
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