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Quoted phrase not found in phrase index: "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
Page 1
Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H. Li W, et al. Front Immunol. 2022 Mar 28;13:825367. doi: 10.3389/fimmu.2022.825367. eCollection 2022. Front Immunol. 2022. PMID: 35418997 Free PMC article.
Two patients with SAVI showed an improvement in the disease scores (p < 0.05). The erythrocyte sedimentation rate normalized in 2 patients with AGS. The interferon score (IS) was remarkably decreased in 2 patients with SPENCD (p < 0.01). ...

Two patients with SAVI showed an improvement in the disease scores (p < 0.05). The erythrocyte sedimentation rate normalized in 2

…
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality …
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964829
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as wi …
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasi …