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retmitis pigmentosa-hypopituitarism-nephronophthisis-mild skeletal dysplasia syndrome相关文献:
Spondyloepiphyseal dysplasia.
Vanĕk J.
J Med Genet. 1983 Apr;20(2):117-21.
PMID:6405037
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
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
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
Axial spondylometaphyseal dysplasia.
Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679.
PMID:9266195
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?
Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C.
Am J Med Genet. 1997 Nov 28;73(1):1-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y.
PMID:9375913
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
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
Spinal deformity in short-stature syndromes.
Tolo VT.
Instr Course Lect. 1990;39:399-405.
PMID:2186130
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