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Journal Abstract Search

193 related items for PubMed ID: 26572954

  • 21. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
    Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Makitie O, Iqbal F, Naz S.
    Eur J Med Genet; 2020 Aug; 63(8):103958. PubMed ID: 32470407
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  • 22. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
    Mustafa S, Akhtar Z, Latif M, Hassan M, Faisal M, Iqbal F.
    Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
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  • 27. Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
    Searle C, Jewell R, Kraft J, Stoebe P, Chumas P, Titheradge H, Kraus A, Gencik M, Hobson E.
    Clin Dysmorphol; 2014 Jan; 23(1):12-15. PubMed ID: 24300290
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  • 29. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
    Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.
    Am J Med Genet A; 2014 May; 164A(5):1175-9. PubMed ID: 24648384
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  • 31. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
    Ain NU, Makitie O, Naz S.
    J Med Genet; 2018 Jun; 55(6):403-407. PubMed ID: 28830906
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  • 32. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.
    Am J Hum Genet; 2011 Dec 09; 89(6):760-6. PubMed ID: 22152677
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  • 33. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
    Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, Thangaraj K, Wise CA, Ikegawa S, Pandita KK, Sharma S.
    Sci Rep; 2016 Jun 13; 6():27684. PubMed ID: 27291587
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  • 38. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
    Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW.
    Nat Genet; 2002 Feb 13; 30(2):215-20. PubMed ID: 11799392
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  • 40. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
    Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.
    Hum Mutat; 2010 Nov 13; 31(11):1233-9. PubMed ID: 20842734
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