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imperforate eyelid相关文献:
Epiphora.
Patel J, Levin A, Patel BC.
2023 Aug 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:32491381
Imperforate puncta with blocked naso-lacrimal duct.
Aggarwal JL.
Br J Ophthalmol. 1972 Oct;56(10):788-90. doi: 10.1136/bjo.56.10.788.
PMID:4679680
Blepharolabioanal syndrome.
Guyuron B, Behmand RA, Michelow B.
J Craniofac Surg. 1995 Sep;6(5):392-4. doi: 10.1097/00001665-199509000-00014.
PMID:9020721
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
Weaver KN, Rutledge KD, Grant JH, Robin NH.
Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
PMID:20101698
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
Slavotinek AM, Tifft CJ.
J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623.
PMID:12205104
The cat eye syndrome.
Cory CC, Jamison DL.
Arch Ophthalmol. 1974 Sep;92(3):259-62. doi: 10.1001/archopht.1974.01010010267021.
PMID:4212393
A rare report on 18-month survival of a dog born with multiple anomalies including atresia ani.
Sundaram V, Mohammed T, Rampersad S, Williams G.
Morphologie. 2021 Sep;105(350):252-258. doi: 10.1016/j.morpho.2020.10.001. Epub 2020 Nov 7.
PMID:33172785
Ankyloblepharon filiforme adnatum and imperforate anus: a new family with apparently autosomal dominant inheritance.
Brøndum-Nielsen K.
Am J Med Genet. 1993 Sep 1;47(3):439. doi: 10.1002/ajmg.1320470332.
PMID:8135297
Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.
Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S.
Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9.
PMID:24719364
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.
J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.
PMID:21507892
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