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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

129 related items for PubMed ID: 37876363

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  • 2. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
    Duz MB, Topak A.
    Clin Dysmorphol; 2020 Oct; 29(4):167-172. PubMed ID: 32639237
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Superti-Furga A, Unger S.
    ; 1993 Oct. PubMed ID: 21882400
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  • 5. Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
    Tanteles GA, Dixit A, Dhar S, Suri M.
    Am J Med Genet A; 2013 Oct; 161A(10):2588-93. PubMed ID: 23918704
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  • 7. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
    Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.
    Clin Genet; 2016 Jul; 90(1):90-5. PubMed ID: 26572954
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  • 9. CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
    Otaify GA, Elhossini RM, Abdel-Ghafar SF, Sayed IM, Abdel-Salam GMH, Aglan MS, Abdel-Hamid MS.
    Am J Med Genet A; 2023 Aug; 191(8):2100-2112. PubMed ID: 37183573
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  • 14. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
    Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR.
    Am J Med Genet A; 2017 Jan; 173(1):163-168. PubMed ID: 27753269
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  • 19. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K.
    Eur J Hum Genet; 2016 Aug; 24(8):1206-10. PubMed ID: 26669664
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  • 20. A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
    Kodra N, Diamonstein C, Hauser NS.
    Mol Genet Genomic Med; 2019 May; 7(5):e648. PubMed ID: 30916490
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