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Journal Abstract Search

196 related items for PubMed ID: 1642809

  • 1. A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?
    Maximilian C, Ioan DM, Fryns JP.
    Genet Couns; 1992; 3(2):115-8. PubMed ID: 1642809
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  • 2. The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.
    Fryns JP, Volcke P, Van den Berghe H.
    Genet Couns; 1992; 3(1):19-24. PubMed ID: 1590976
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  • 10. Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
    Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns JP.
    Genet Couns; 2005; 16(2):167-71. PubMed ID: 16080297
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  • 13. Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly.
    Marakoglu I, Percin EF, Gursoy UK, Onarlioglu B, Ergur AT.
    Genet Couns; 2005; 16(2):161-5. PubMed ID: 16080296
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  • 14. Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3).
    Kleczkowska A, Decock P, van den Berghe H, Fryns JP.
    Genet Couns; 1994; 5(4):393-7. PubMed ID: 7888144
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  • 15. New syndromes of mental retardation.
    Thurmon TF, Santos CL.
    Birth Defects Orig Artic Ser; 1975; 11(2):264-8. PubMed ID: 1227531
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  • 18. A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency.
    Hurst JA, Baraitser M, Winter RM.
    Am J Med Genet; 1987 Dec; 28(4):965-70. PubMed ID: 3688035
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  • 20. Vertical transmission of the Ohdo blepharophimosis syndrome.
    Mhanni AA, Dawson AJ, Chudley AE.
    Am J Med Genet; 1998 May 01; 77(2):144-8. PubMed ID: 9605288
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