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retmitis pigmentosa-hypopituitarism-nephronophthisis-mild skeletal dysplasia syndrome相关文献:
Dysplasias in the Child's Spine.
Campbell JW.
Neurosurg Clin N Am. 2022 Jan;33(1S):e1-e10. doi: 10.1016/j.nec.2022.02.001. Epub 2022 Aug 6.
PMID:36115686
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA.
Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22.
PMID:25939055
Skeletal Dysplasia: A Case Report.
Gică N, Mîrza G, Gică C, Panaitescu AM, Ciobanu AM, Peltecu G, Huluță I.
Diagnostics (Basel). 2023 Sep 11;13(18):2905. doi: 10.3390/diagnostics13182905.
PMID:37761271
Rare syndromes.
Jabbour SA, Davidovici BB, Wolf R.
Clin Dermatol. 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005.
PMID:16828412
Das Mazabraud-Syndrom: Eine seltene Kombination intramuskulärer Myxome mit fibröser Dysplasie.
Wrazidlo RW, Afat S, Othman AE.
Rofo. 2020 Dec;192(12):1205-1206. doi: 10.1055/a-1167-8431. Epub 2020 Jun 9.
PMID:32516829
Cilia kinases in skeletal development and homeostasis.
Abraham SP, Nita A, Krejci P, Bosakova M.
Dev Dyn. 2022 Apr;251(4):577-608. doi: 10.1002/dvdy.426. Epub 2021 Oct 18.
PMID:34582081
Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.
Villegas MA, Okenfuss E, Savarirayan R, White K, Hoover-Fong J, Bober MB, Duker A, Legare JM.
Neurosurg Clin N Am. 2022 Jan;33(1):7-15. doi: 10.1016/j.nec.2021.09.002. Epub 2021 Oct 26.
PMID:34801144
What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?
Merchant N, Polgreen LE, Rosenfeld RG.
J Clin Endocrinol Metab. 2024 Apr 19;109(5):e1410-e1414. doi: 10.1210/clinem/dgad726.
PMID:38078681
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G.
Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067.
PMID:37053103
Skeletal dysplasia-like syndromes in wild giraffe.
Brown MB, Wells E.
BMC Res Notes. 2020 Dec 30;13(1):569. doi: 10.1186/s13104-020-05403-9.
PMID:33380342
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