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short face syndrome相关文献:
The short face syndrome.
Opdebeeck H, Bell WH.
Am J Orthod. 1978 May;73(5):499-511. doi: 10.1016/0002-9416(78)90240-3.
PMID:277066
Smith-Magenis Syndrome: Face Speaks.
Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR.
Indian J Pediatr. 2016 Jun;83(6):589-93. doi: 10.1007/s12098-015-1940-y. Epub 2015 Dec 17.
PMID:26676648
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.
PMID:27302555
Monosomy 18p.
Turleau C.
Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4.
PMID:18284672
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ.
Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11.
PMID:19309503
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B.
Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50.
PMID:17163996
Unmasking Kabuki syndrome.
Bögershausen N, Wollnik B.
Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
PMID:23131014
Surgical treatment of the short face syndrome.
Freihofer HP.
J Oral Surg. 1981 Nov;39(11):907-11.
PMID:6945418
Rubinstein-Taybi syndrome: the changing face.
Allanson JE.
Am J Med Genet Suppl. 1990;6:38-41. doi: 10.1002/ajmg.1320370606.
PMID:2118776
Tethered cord syndrome in KBG syndrome.
Hills S, Pugacheva A, Weltin P, Maughan A, Morton SU, Feldman HA, Klinge PM, Agrawal PB.
Am J Med Genet A. 2023 May;191(5):1222-1226. doi: 10.1002/ajmg.a.63128. Epub 2023 Feb 1.
PMID:36722669
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