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metaphyseal chondrodysplasia相关文献:
Schmid Metaphyseal Chondrodysplasia.
Richmond CM, Savarirayan R.
2019 Oct 21 [updated 2024 May 9]. 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:31633898
Metaphyseal chondrodysplasia.
Spranger JW.
Postgrad Med J. 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480.
PMID:335375
PTH1R-Related Jansen Metaphyseal Chondrodysplasia.
Obiezu F, Boyce A, Jüppner H, Jha S.
2025 Jul 10. 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:40638774
Approach to Hypercalcemia.
Goltzman D.
2023 Apr 17. 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:25905352
Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F, Magone De Quadros Costa MT, Huryn LA, Pan K, Almpani K, Ninan A, Roszko KL, Weinstein LS, Gafni RI, Ferreira CR, Lee J, Collins MT, Jha S.
JBMR Plus. 2024 Jul 12;8(9):ziae089. doi: 10.1093/jbmrpl/ziae089. eCollection 2024 Sep.
PMID:39108358
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
Lachman RS, Rimoin DL, Spranger J.
Pediatr Radiol. 1988;18(2):93-102. doi: 10.1007/BF02387549.
PMID:3281118
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.
Levin TL, Mäkitie O, Berdon WE, Lachman RS.
Pediatr Radiol. 2015 Jul;45(7):1066-71. doi: 10.1007/s00247-014-3231-6. Epub 2014 Nov 23.
PMID:25416932
[Metaphyseal chondrodysplasia (metaphyseal dysplasia)].
Nishimura G.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):180-1.
PMID:11528689
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG.
Orthop Surg. 2018 Aug;10(3):241-246. doi: 10.1111/os.12382. Epub 2018 Jul 19.
PMID:30027601
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Obiezu F, Almpani K, Kim HJ, Zalewski C, Chu E, Jahanmir G, Roszko KL, Boyce A, Farhadi F, Weinstein LS, Gafni RI, Ferreira CR, Jüppner H, Collins MT, Lee JS, Jha S.
JBMR Plus. 2024 Nov 26;9(2):ziae156. doi: 10.1093/jbmrpl/ziae156. eCollection 2025 Feb.
PMID:39830149
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