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acrocephalo polydactyly相关文献:
Polydactyly.
Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M.
Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023.
PMID:31787158
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C.
J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a.
PMID:19165041
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G.
Jpn J Radiol. 2020 Mar;38(3):193-206. doi: 10.1007/s11604-020-00920-w. Epub 2020 Jan 21.
PMID:31965514
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.
Nagayama S, Takahashi H, Hasegawa F, Hori A, Kizami S, Furukawa R, Horie K, Ogoyama M, Hata K, Fujiwara H.
Congenit Anom (Kyoto). 2024 Jul;64(4):177-181. doi: 10.1111/cga.12569. Epub 2024 Apr 18.
PMID:38637985
[Acrocephalopolysyndactyly].
Kawame H.
Ryoikibetsu Shokogun Shirizu. 2001;(33):117-8.
PMID:11462358
The carpenter syndrome phenotype.
Tarhan E, Oğuz H, Safak MA, Samim E.
Int J Pediatr Otorhinolaryngol. 2004 Mar;68(3):353-7. doi: 10.1016/j.ijporl.2003.10.009.
PMID:15129947
Syndactyly and polydactyly.
Ruby L, Goldberg MJ.
Orthop Clin North Am. 1976 Apr;7(2):361-74.
PMID:177923
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.
Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, Erol A, Yenisert F, Catalbas K, Ozbakir DH, Kocagil S, Cilingir O, Ergun MA, Kaplan OI.
Eur J Hum Genet. 2025 Oct;33(10):1240-1251. doi: 10.1038/s41431-025-01902-0. Epub 2025 Jul 4.
PMID:40615527
Sudden death in a child with Carpenter Syndrome. Case report and literature review.
Ramos JM, Davis GJ, Hunsaker JC 3rd, Balko MG.
Forensic Sci Med Pathol. 2009 Dec;5(4):313-7. doi: 10.1007/s12024-009-9128-2. Epub 2009 Nov 19.
PMID:19924577
Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation.
Goyal M, Gupta A, Kapoor S, Bhandari A.
Indian J Pediatr. 2020 Jun;87(6):469-470. doi: 10.1007/s12098-019-03140-x. Epub 2019 Dec 26.
PMID:31879841
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