Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients-Reference-Cited by-同舟云学术

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Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

Published:2017-12-20 Issue:3 Volume:63 Page:257-261
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lee Beom Hee,Morice-Picard Fanny,Boralevi Franck^ORCID,Chen Brenden,Desnick Robert J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0375-x.pdf

Reference20 articles.

1. Lee BH, Aggarwal A, Slavotinek AM, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017;54:585–90.

2. Slavotinek AM, Lee BH, Desnick RJ. Focal facial dermal dysplasias. epstein’s inborn errors of development: the molecular basis of clinical disorder of morphogenesis. New York, NY, USA: Oxford University Press; 2016. doi: 10 1093/med/97801999345220030067.

3. Tukel T, Sosic D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, et al. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet 2010;87:289–96.

4. Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Del-Castillo V, et al. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet 2011;48:716–20.

5. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2013;22:696–703.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Role of carotenoids and retinoids during heart development;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2020-11

2. Two siblings with scarlike facial lesions;Pediatric Dermatology;2019-03

3. A case of focal facial dermal dysplasia type 4;Pediatric Dermatology;2018-12-18

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