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Journal Abstract Search

127 related items for PubMed ID: 38789278

  • 1. Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
    Burrill N, Crane H, Khalek N, Soni S, Wild KT, Skraban C, McManus M, Szigety K, Oliver ER, Partridge E, Agarwal S, Fisher A, Wang J, Moldenhauer JS.
    Am J Med Genet A; 2024 Oct; 194(10):e63719. PubMed ID: 38789278
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  • 2. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
    Papamichail M, Manolakos E, Papoulidis I, Siomou E, Eleftheriades A, Marinakis I, Tzanakis K, Sartsidis A, Vlahos NF, Eleftheriades M.
    Eur J Med Genet; 2021 Nov; 64(11):104318. PubMed ID: 34450357
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  • 3. Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
    Lawson C, Blakemore KJ, Ryan R, Hooper JE, Tsimis M, Jelin A.
    Am J Med Genet A; 2020 Jul; 182(7):1812-1814. PubMed ID: 32441374
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  • 4. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
    Hampshire K, Martin PM, Carlston C, Slavotinek A.
    Am J Med Genet A; 2020 Aug; 182(8):1923-1932. PubMed ID: 32506774
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  • 5. Baraitser-Winter cerebrofrontofacial syndrome.
    Yates TM, Turner CL, Firth HV, Berg J, Pilz DT.
    Clin Genet; 2017 Jul; 92(1):3-9. PubMed ID: 27625340
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  • 9. Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.
    Aiyar L, Stumbaugh T, Hirata GI, Chen B, Lau HL, Wallerstein RJ.
    Clin Dysmorphol; 2019 Jul; 28(3):164-166. PubMed ID: 30921093
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  • 12. Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis.
    Suwanrath-Kengpol C, Limprasert P, Mitarnun W.
    Prenat Diagn; 2004 Nov; 24(11):887-9. PubMed ID: 15565585
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  • 18. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
    Aukema SM, Ten Brinke GA, Timens W, Vos YJ, Accord RE, Kraft KE, Santing MJ, Morssink LP, Streefland E, van Diemen CC, Vrijlandt EJ, Hulzebos CV, Kerstjens-Frederikse WS.
    Am J Med Genet A; 2020 Sep; 182(9):2152-2160. PubMed ID: 32618121
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