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Journal Abstract Search

152 related items for PubMed ID: 34159694

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  • 2. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
    Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L.
    Clin Genet; 2018 Jun; 93(6):1148-1158. PubMed ID: 29443383
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  • 3. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
    Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L.
    Genes (Basel); 2019 Oct 12; 10(10):. PubMed ID: 31614862
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  • 6. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
    Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A.
    Am J Hum Genet; 2013 Jun 06; 92(6):935-45. PubMed ID: 23664118
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  • 7. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
    Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M.
    Orphanet J Rare Dis; 2017 Sep 07; 12(1):153. PubMed ID: 28882145
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  • 9. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
    Sulko J, Kozlowski K.
    J Pediatr Orthop B; 2008 Nov 07; 17(6):323-7. PubMed ID: 18841068
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  • 12. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996 Nov 07; 7(3):219-25. PubMed ID: 8897044
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  • 13. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
    Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.
    Am J Med Genet A; 2004 Jul 01; 128A(1):39-45. PubMed ID: 15211654
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  • 14. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
    Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB.
    Semin Pediatr Neurol; 2014 Jun 01; 21(2):84-7. PubMed ID: 25149931
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  • 18. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
    Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.
    Genes (Basel); 2019 Aug 21; 10(9):. PubMed ID: 31438591
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