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focal-facial-dermal dysplasia相关文献:
Focal Facial Dermal Dysplasia Type 4.
Kumar P, Das A.
Indian Dermatol Online J. 2020 Jan 24;11(4):670-671. doi: 10.4103/idoj.IDOJ_347_19. eCollection 2020 Jul-Aug.
PMID:32832475
PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K.
2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:23946963
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ.
J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29.
PMID:28663233
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.
Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
PMID:23161670
A case of focal facial dermal dysplasia type 4.
Mehrtens SH, Shankar S.
Pediatr Dermatol. 2019 Jan;36(1):e58-e59. doi: 10.1111/pde.13730. Epub 2018 Dec 18.
PMID:30561078
Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.
Cao Q, Zhang S, Wang J, Wang Y, Pan C, Wang X, Zhao A, Chen X, Qin P, Zhang S, Yao Z, Lv D, Yang Y, Li M.
J Dermatol. 2022 Oct;49(10):1057-1061. doi: 10.1111/1346-8138.16488. Epub 2022 Jun 17.
PMID:35713327
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.
Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ.
J Hum Genet. 2018 Mar;63(3):257-261. doi: 10.1038/s10038-017-0375-x. Epub 2017 Dec 20.
PMID:29263414
Familial focal facial dermal dysplasia.
McGeoch AH, Reed WB.
Birth Defects Orig Artic Ser. 1971 Jun;7(8):96-9.
PMID:5173318
Familial focal facial dermal dysplasia.
McGeoch AH, Reed WB.
Arch Dermatol. 1973 Apr;107(4):591-5.
PMID:4697690
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ.
Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27.
PMID:25728400
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