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Journal Abstract Search

116 related items for PubMed ID: 7253005

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  • 3. Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?
    Escobar V, Bixler D.
    Birth Defects Orig Artic Ser; 1977; 13(3C):139-54. PubMed ID: 890108
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  • 5. Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.
    Soekarman D, Fryns JP, van den Berghe H.
    Genet Couns; 1992; 3(4):217-20. PubMed ID: 1472357
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  • 6. [A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].
    Ronconi GF, Pesenti P, Cenzi R, Baciliero U, Zanardo V, Curioni C.
    Pediatr Med Chir; 1982; 4(4):459-66. PubMed ID: 7170223
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  • 10. Phenotype definition and recurrence risk in the acrocephalosyndactyly syndromes.
    Bull MJ, Escobar V, Bixler D, Antley RM.
    Birth Defects Orig Artic Ser; 1979; 15(5B):65-74. PubMed ID: 526591
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  • 14. The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis.
    Escobar V, Bixler D.
    Clin Genet; 1977 Apr; 11(4):295-35. PubMed ID: 856510
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  • 18. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y.
    Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):425-8. PubMed ID: 11556600
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  • 19. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.
    Ettinger N, Williams M, Phillips JA.
    J Craniofac Surg; 2013 Jun; 24(5):1829-32. PubMed ID: 24036790
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