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2. An unusual, possibly "new" MA/MR syndrome with sagittal craniosynostosis. Pfeiffer RA, Tietze U, Welte W. Eur J Pediatr; 1987 Jan; 146(1):74-5. PubMed ID: 3034618 [Abstract] [Full Text] [Related]
3. Pfeiffer type cardiocranial syndrome: a third case report. Williamson-Kruse L, Biesecker LG. J Med Genet; 1995 Nov; 32(11):901-3. PubMed ID: 8592338 [Abstract] [Full Text] [Related]
4. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC. Am J Med Genet A; 2013 Dec; 161A(12):3121-5. PubMed ID: 24115482 [Abstract] [Full Text] [Related]
8. Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. Digilio MC, Marino B, Borzaga U, Giannotti A, Dallapiccola B. Am J Med Genet; 1997 Dec 31; 73(4):480-3. PubMed ID: 9415478 [Abstract] [Full Text] [Related]
17. Mowat-Wilson syndrome with craniosynostosis: a case report. Adam MP, Justice AN, Bean LJ, Fernhoff PM. Am J Med Genet A; 2008 Jan 15; 146A(2):245-6. PubMed ID: 18076118 [No Abstract] [Full Text] [Related]
19. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). Bonthron DT, Barlow KM, Burt AM, Barr DG. J Med Genet; 1993 Mar 15; 30(3):255-6. PubMed ID: 8474111 [Abstract] [Full Text] [Related]
20. Baller-Gerold syndrome: case report and clinical and radiological review. Dallapiccola B, Zelante L, Mingarelli R, Pellegrino M, Bertozzi V. Am J Med Genet; 1992 Feb 01; 42(3):365-8. PubMed ID: 1536180 [Abstract] [Full Text] [Related] Page: [Next] [New Search]