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sex chromosome dysplasia相关文献:
Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K.
Eur J Med Genet. 2021 Nov;64(11):104332. doi: 10.1016/j.ejmg.2021.104332. Epub 2021 Sep 2.
PMID:34481091
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.
Foster JW.
Acta Paediatr Jpn. 1996 Aug;38(4):405-11. doi: 10.1111/j.1442-200x.1996.tb03515.x.
PMID:8840554
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y.
Hum Mol Genet. 1996 Jan;5(1):69-72. doi: 10.1093/hmg/5.1.69.
PMID:8789441
Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
Schafer AJ, Foster JW, Kwok C, Weller PA, Guioli S, Goodfellow PN.
Ann N Y Acad Sci. 1996 Jun 8;785:137-49. doi: 10.1111/j.1749-6632.1996.tb56252.x.
PMID:8702120
Sex linked valvular dysplasia.
Newbury-Ecob RA, Zuccollo JM, Rutter N, Young ID.
J Med Genet. 1993 Oct;30(10):873-4. doi: 10.1136/jmg.30.10.873.
PMID:8230166
The role of SOX9 in autosomal sex reversal and campomelic dysplasia.
Schafer AJ, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al.
Philos Trans R Soc Lond B Biol Sci. 1995 Nov 29;350(1333):271-7; discussion 277-8. doi: 10.1098/rstb.1995.0161.
PMID:8570691
The Lyon hypothesis.
Larsen WG.
Arch Dermatol. 1968 Mar;97(3):342-3. doi: 10.1001/archderm.97.3.342.
PMID:4868528
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al.
Nature. 1994 Dec 8;372(6506):525-30. doi: 10.1038/372525a0.
PMID:7990924
[X-linked genodermatoses].
Vabres P, Larrégue M.
Ann Dermatol Venereol. 1995;122(4):154-60.
PMID:8526409
[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality].
Feng L, Guo Y, Ma H, He L, Song F, Zhou Y, Tang L.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):768-772. doi: 10.3760/cma.j.cn511374-20210513-00409.
PMID:35810439
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