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Journal Abstract Search

168 related items for PubMed ID: 6093671

  • 21.
    ; . PubMed ID:
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  • 22.
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  • 23. Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.
    Shanske AL, Hoper SA, Krahn K, Schutte BC.
    Am J Med Genet A; 2004 Aug 01; 128A(4):431-3. PubMed ID: 15264293
    [No Abstract] [Full Text] [Related]

  • 24.
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  • 25. [Bilateral popliteal pterygium in siblings simultaneously affected with cleft lip and palate].
    Standoli L, Gasperoni C.
    Minerva Chir; 1983 Mar 31; 38(6):393-6. PubMed ID: 6856124
    [No Abstract] [Full Text] [Related]

  • 26.
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  • 27. Limb pterygium syndromes: a review and report of eleven patients.
    Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.
    Am J Med Genet; 1982 Aug 31; 12(4):377-409. PubMed ID: 7124793
    [Abstract] [Full Text] [Related]

  • 28. Popliteal pterygium syndrome in monozygous twins.
    Bixler D, Poland C, Nance WE.
    Birth Defects Orig Artic Ser; 1974 Aug 31; 10(5):167-75. PubMed ID: 4469980
    [No Abstract] [Full Text] [Related]

  • 29. A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
    Dinçer T, Gümüş E, Toraman B, Er İ, Yildiz G, Yüksel Z, Kalay E.
    Am J Med Genet A; 2021 Jun 31; 185(6):1691-1699. PubMed ID: 33713555
    [Abstract] [Full Text] [Related]

  • 30. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.
    Bartsocas CS, Papas CV.
    J Med Genet; 1972 Jun 31; 9(2):222-6. PubMed ID: 4339984
    [No Abstract] [Full Text] [Related]

  • 31. Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
    Sankhyan N, Kaushal RK, Sarin S.
    Dermatol Online J; 2006 May 30; 12(4):5. PubMed ID: 17083860
    [Abstract] [Full Text] [Related]

  • 32. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A, Colletto GM, Gollop TR, Masiero D.
    Am J Med Genet; 1985 Apr 30; 20(4):631-8. PubMed ID: 2986457
    [Abstract] [Full Text] [Related]

  • 33. Popliteal pterygium syndrome with special consideration of the cleft malformation: case report.
    Koch H, Grzonka M, Koch J.
    Cleft Palate Craniofac J; 1992 Jan 30; 29(1):80-4. PubMed ID: 1312355
    [Abstract] [Full Text] [Related]

  • 34. Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia.
    Vandeweyer E, Urbain FC, DeMey A.
    Br J Plast Surg; 2000 Jan 30; 53(1):65-7. PubMed ID: 10657453
    [Abstract] [Full Text] [Related]

  • 35. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
    Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.
    J Med Genet; 2004 Feb 30; 41(2):e15. PubMed ID: 14757865
    [No Abstract] [Full Text] [Related]

  • 36. Phenotypic variability in van der Woude syndrome.
    Lacombe D, Pedespan JM, Fontan D, Chateil JF, Verloes A.
    Genet Couns; 1995 Feb 30; 6(3):221-6. PubMed ID: 8588850
    [Abstract] [Full Text] [Related]

  • 37. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
    Pengelly RJ, Upstill-Goddard R, Arias L, Martinez J, Gibson J, Knut M, Collins AL, Ennis S, Collins A, Briceno I.
    Clin Genet; 2015 Nov 30; 88(5):441-9. PubMed ID: 25441681
    [Abstract] [Full Text] [Related]

  • 38. A case of facio-genito-popliteal syndrome.
    Riley P.
    Cent Afr J Med; 1988 Nov 30; 34(11):277-8. PubMed ID: 2855310
    [No Abstract] [Full Text] [Related]

  • 39. Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.
    Zaki MS, Kamel AK, Effat LK, El-Ruby MO.
    Genet Couns; 2012 Nov 30; 23(2):269-79. PubMed ID: 22876587
    [Abstract] [Full Text] [Related]

  • 40. [The popliteal pterygium syndrome. A dominant autosomal malformation syndrome].
    Pfeiffer RA, Tünte W, Reinken M.
    Z Kinderheilkd; 1970 Nov 30; 108(2):103-16. PubMed ID: 4325529
    [No Abstract] [Full Text] [Related]

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