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名词信息
中 文 名:
埃利斯-范可勒韦德综合征
英 文 名:
Ellis-van Creveld syndrome
中文又称:
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Ellis-van Creveld syndrome
相关文献:
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M.
Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27.
PMID:17547743
Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review.
Lauritano D, Attuati S, Besana M, Rodilosso G, Quinzi V, Marzo G, Carinci F.
Eur J Paediatr Dent. 2019 Dec;20(4):306-310. doi: 10.23804/ejpd.2019.20.04.09.
PMID:31850774
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V.
J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4.
PMID:35927022
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
Thomas DC, Moorthy JD, Prabhakar V, Ajayakumar A, Pitchumani PK.
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):36-46. doi: 10.1002/ajmg.c.31969. Epub 2022 Apr 8.
PMID:35393766
Ellis-van Creveld syndrome.
Sasalawad SS, Hugar SM, Poonacha KS, Mallikarjuna R.
BMJ Case Rep. 2013 Jul 9;2013:bcr2013009463. doi: 10.1136/bcr-2013-009463.
PMID:23843404
Ellis-van Creveld syndrome in a neonate: a case report.
Asif S, Salahudeen AA, Nadeem G, Sattar A.
J Pak Med Assoc. 2023 Mar;73(3):687-689. doi: 10.47391/JPMA.5375.
PMID:36932784
Ellis-van Creveld syndrome: a case report.
Hameed M, Jesrani AK, Tariq SM, Hanif H, Bansari S, Kumar A.
J Pak Med Assoc. 2024 Feb;74(2):391-393. doi: 10.47391/JPMA.7049.
PMID:38419244
Ellis-van Creveld syndrome.
Lichiardopol C, Militaru C.
Rom J Morphol Embryol. 2006;47(4):363-6.
PMID:17392984
Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications.
Guha A, Malhotra R, Saxena R, Keshri VK.
Ann Card Anaesth. 2023 Jul-Sep;26(3):346-348. doi: 10.4103/aca.aca_166_22.
PMID:37470539
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL, Goodship JA.
Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226.
PMID:19876929
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