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achondrogenesis相关文献:
Achondrogenesis Type 1B.
Unger S, Superti-Furga A.
2002 Aug 30 [updated 2023 Mar 16]. 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:20301689
Achondrogenesis.
Kapur RP.
Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. doi: 10.2350/07-01-0216.1.
PMID:17638434
Achondrogenesis type 1B.
Superti-Furga A.
J Med Genet. 1996 Nov;33(11):957-61. doi: 10.1136/jmg.33.11.957.
PMID:8950678
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene.
Dogan P, Varal IG, Gorukmez O, Akkurt MO, Akdag A.
Balkan J Med Genet. 2019 Aug 28;22(1):89-94. doi: 10.2478/bjmg-2019-0001. eCollection 2019 Jun.
PMID:31523626
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.
Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin DL.
J Pediatr. 1988 Jan;112(1):23-31. doi: 10.1016/s0022-3476(88)80113-6.
PMID:3275766
Osteogenesis Imperfecta.
Marini JC, Dang Do AN.
2020 Jul 26. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905334
Achondrogenesis type 1A--from mouse to human.
Freeze HH.
N Engl J Med. 2010 Jan 21;362(3):266-7. doi: 10.1056/NEJMe0911455.
PMID:20089978
Achondrogenesis.
MacHenry JC, Nevin NC, Thomas PS.
Ir J Med Sci. 1978 Nov;147(11):404-6. doi: 10.1007/BF02939440.
PMID:721399
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R.
Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166.
PMID:34019743
New subtype of familial achondrogenesis type IA (Houston-Harris).
Ramírez-García SA, García-Cruz D, Cervantes-Aragón I, Bitar-Alatorre WE, Dávalos-Rodríguez IP, Dávalos-Rodríguez NO, Corona-Rivera JR, Sánchez-Corona J.
Cir Cir. 2019;86(1):81-89. doi: 10.24875/CIRUE.M18000013.
PMID:30951048
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