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Journal Abstract Search

217 related items for PubMed ID: 2277384

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  • 4. MASA syndrome: further clinical delineation and chromosomal localisation.
    Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN.
    Hum Genet; 1989 Jul; 82(4):367-70. PubMed ID: 2737668
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  • 8. X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
    Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Le Merrer M.
    Eur J Pediatr; 1992 Jul; 151(7):515-8. PubMed ID: 1396913
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  • 14. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
    Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ.
    Eur J Hum Genet; 1995 Jul; 3(5):273-84. PubMed ID: 8556302
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  • 18. Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
    Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F.
    Eur J Pediatr; 2015 Nov; 174(11):1541-4. PubMed ID: 25948108
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  • 19. Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.
    Timor-Tritsch IE, Monteagudo A, Haratz-Rubinstein N, Levine RU.
    Prenat Diagn; 1996 Jun; 16(6):543-8. PubMed ID: 8809896
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