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Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.
Warnier H, Barrea C, Bethlen S, Schrouff I, Harvengt J. Warnier H, et al. Orphanet J Rare Dis. 2022 Apr 23;17(1):174. doi: 10.1186/s13023-022-02323-8. Orphanet J Rare Dis. 2022. PMID: 35461249 Free PMC article. Review.
BACKGROUND: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. ...
BACKGROUND: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and …
Stuve-Wiedemann syndrome and related bent bone dysplasias.
Akawi NA, Ali BR, Al-Gazali L. Akawi NA, et al. Clin Genet. 2012 Jul;82(1):12-21. doi: 10.1111/j.1399-0004.2012.01852.x. Epub 2012 Feb 21. Clin Genet. 2012. PMID: 22300393 Review.
Stuve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. ...
Stuve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic …
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH, van Zon S, Adams A, Schmidt-Arras D, Laurence ADJ, Uhlig HH. Chen YH, et al. J Clin Immunol. 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. J Clin Immunol. 2023. PMID: 38133879 Free PMC article. Review.
Loss-of-function variants with (i) biallelic complete loss of GP130 function that presents with extended Stuve-Wiedemann Syndrome; (ii) autosomal recessive hyper-IgE syndrome (HIES) caused by biallelic; and (iii) autosomal dominant HIES caused by monoallelic …
Loss-of-function variants with (i) biallelic complete loss of GP130 function that presents with extended Stuve-Wiedemann Sy …
New insights in congenital bowing of the femora.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M. Cormier-Daire V, et al. Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. Clin Genet. 2004. PMID: 15324311 Review.
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stuve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known m …
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stuve …
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Nannenberg EA, et al. Am J Med Genet A. 2005 Feb 15;133A(1):90-2. doi: 10.1002/ajmg.a.30536. Am J Med Genet A. 2005. PMID: 15637710 Review.
With time it became clear that he was developmentally delayed. A short review is provided, and the resemblance with the Stuve-Wiedemann syndrome is stressed....
With time it became clear that he was developmentally delayed. A short review is provided, and the resemblance with the Stuve-Wied …