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congenital arthrogryposis multiplex congenita相关文献:
Arthrogryposis Multiplex Congenita.
Langston S, Chu A.
Pediatr Ann. 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01.
PMID:32674167
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J.
J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5.
PMID:33820833
Arthrogryposis multiplex congenita.
Blattner RJ.
J Pediatr. 1966 May;68(5):823-5. doi: 10.1016/s0022-3476(66)80464-x.
PMID:5325963
Arthrogryposis multiplex congenita.
Gordon N.
Brain Dev. 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0.
PMID:9840670
Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.
Dayasiri K, Jayaweera H.
J Med Case Rep. 2022 Oct 19;16(1):376. doi: 10.1186/s13256-022-03587-1.
PMID:36258204
Arthrogryposis multiplex congenita.
Gibson DA, Urs ND.
J Bone Joint Surg Br. 1970 Aug;52(3):483-93.
PMID:5455080
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings.
Skaria P, Dahl A, Ahmed A.
J Matern Fetal Neonatal Med. 2019 Feb;32(3):502-511. doi: 10.1080/14767058.2017.1381683. Epub 2017 Sep 27.
PMID:28954562
The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.
Hermansen MV, Wekre LL, Lidal IB.
Am J Med Genet A. 2023 Jul;191(7):1693-1703. doi: 10.1002/ajmg.a.63201. Epub 2023 Apr 3.
PMID:37009761
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F.
Hum Mutat. 2022 Apr;43(4):487-498. doi: 10.1002/humu.24333. Epub 2022 Feb 3.
PMID:35077597
Arthrogryposis multiplex congenita.
Bender LH, Withrow CA.
Orthop Nurs. 1989 Sep-Oct;8(5):29-35. doi: 10.1097/00006416-198909000-00009.
PMID:2797850
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