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2. 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 [Abstract] [Full Text] [Related]
3. An etiologic and nosologic overview of craniosynostosis syndromes. Cohen MM. Birth Defects Orig Artic Ser; 1975; 11(2):137-89. PubMed ID: 179637 [Abstract] [Full Text] [Related]
9. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Am J Med Genet; 1998 Jul 07; 78(3):237-41. PubMed ID: 9677057 [Abstract] [Full Text] [Related]
15. Palatal anomalies in the syndromes of Apert and Crouzon. Peterson SJ, Pruzansky S. Cleft Palate J; 1974 Oct 07; 11():394-403. PubMed ID: 4530751 [No Abstract] [Full Text] [Related]
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19. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Am J Med Genet C Semin Med Genet; 2013 Nov 07; 163C(4):259-70. PubMed ID: 24127277 [Abstract] [Full Text] [Related]
20. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF. Nat Genet; 1995 Feb 07; 9(2):173-6. PubMed ID: 7719345 [Abstract] [Full Text] [Related] Page: [Next] [New Search]