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congenital epicanthus相关文献:
Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:37276318
Epicanthus and epiblepharon.
Johnson CC.
Arch Ophthalmol. 1978 Jun;96(6):1030-3. doi: 10.1001/archopht.1978.03910050554013.
PMID:655941
Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Battaglia A, Carey JC, South ST.
2002 Apr 29 [updated 2015 Aug 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301362
Congenital Epicanthus and Ptosis.
Sattler R.
Trans Am Ophthalmol Soc. 1897;8:96-9.
PMID:25259237
A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
Gupta N, Ganesh S, Singla P, Kumar S.
Eur J Ophthalmol. 2021 Mar;31(2):NP8-NP11. doi: 10.1177/1120672119886427. Epub 2019 Nov 22.
PMID:31752537
Ectropion.
Bedran EG, Pereira MV, Bernardes TF.
Semin Ophthalmol. 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570.
PMID:20590414
Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Delle Fave M, Cordonnier M, Polyanina M, Kallay O.
J Fr Ophtalmol. 2021 Mar;44(3):e159-e161. doi: 10.1016/j.jfo.2020.06.007. Epub 2021 Jan 8.
PMID:33423812
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P, Sandboe F.
Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x.
PMID:8689480
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ…
Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.
PMID:30827496
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.
Zhou L, Wang T, Wang J.
Ophthalmic Plast Reconstr Surg. 2017 May/Jun;33(3S Suppl 1):S82-S84. doi: 10.1097/IOP.0000000000000708.
PMID:27115209
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