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MIDAS syndrome相关文献:
Microphthalmia with linear skin defects syndrome (MIDAS).
Banganho D, Oliveira I, Machado C, Póvoas M.
BMJ Case Rep. 2019 Apr 23;12(4):e227791. doi: 10.1136/bcr-2018-227791.
PMID:31015240
Goltz syndrome and PORCN: A view from Europe.
Happle R.
Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):21-3. doi: 10.1002/ajmg.c.31469. Epub 2016 Jan 22.
PMID:26799923
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
Happle R, Daniëls O, Koopman RJ.
Am J Med Genet. 1993 Oct 1;47(5):710-3. doi: 10.1002/ajmg.1320470525.
PMID:8267001
Microphthalmia with Linear Skin Defects Syndrome.
Morleo M, Franco B.
2009 Jun 18 [updated 2018 Jul 26]. 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:20301767
Ocular manifestations in the X-linked intellectual disability syndromes.
Couser NL, Masood MM, Aylsworth AS, Stevenson RE.
Ophthalmic Genet. 2017 Sep-Oct;38(5):401-412. doi: 10.1080/13816810.2016.1247459. Epub 2017 Jan 23.
PMID:28112979
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.
Herwig MC, Loeffler KU, Gembruch U, Kuchelmeister K, Müller AM.
Pediatr Dev Pathol. 2014 Nov-Dec;17(6):491-5. doi: 10.2350/13-11-1408-CR.1. Epub 2014 Oct 7.
PMID:25291437
Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype.
Kotzot D, Hoffmann K, Kujat A, Holland H, Froster UG, Mücke J.
Am J Med Genet. 2002 Nov 15;113(1):108-10. doi: 10.1002/ajmg.10718.
PMID:12400076
[COX7B mutations in MIDAS syndrome or microphthalmia with linear skin defects (MLS)].
Dereure O.
Ann Dermatol Venereol. 2013 May;140(5):405-6. doi: 10.1016/j.annder.2013.02.001. Epub 2013 Mar 16.
PMID:23663720
Ocular manifestations of genetic and developmental diseases.
Diamond G.
Curr Opin Ophthalmol. 1994 Dec;5(6):72-8. doi: 10.1097/00055735-199412000-00012.
PMID:10150831
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
Franco E, Scanga HL, Nischal KK.
Am J Med Genet A. 2023 Feb;191(2):586-591. doi: 10.1002/ajmg.a.63043. Epub 2022 Nov 11.
PMID:36369709
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