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Journal Abstract Search
135 related items for PubMed ID: 537034
1. The Börjeson-Forssman-Lehmann syndrome: a new case. Veall RM, Brett EM, Rivinus TM, Stephens R. J Ment Defic Res; 1979 Dec; 23(4):231-42. PubMed ID: 537034 [Abstract] [Full Text] [Related]
2. Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome. Preus M. J Ment Defic Res; 1984 Sep; 28 ( Pt 3)():235-8. PubMed ID: 6492141 [Abstract] [Full Text] [Related]
5. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. Carter MT, Picketts DJ, Hunter AG, Graham GE. Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141 [Abstract] [Full Text] [Related]
10. [Heterogeneity of Seckel syndrome? Apropos of a case]. Toudic L, Maroteaux P, Castel Y, Gouedard H, Parent P. Ann Pediatr (Paris); 1983 Nov; 30(9):700-4. PubMed ID: 6660802 [No Abstract] [Full Text] [Related]
11. [Börjeson-Forssman-Lehmann syndrome: report of a case]. Wojciechowski M, Dutra-Filho CS, Da Costa AC, Laser LF, Giugliani R, Rotta NT, Ohlweiler L. Arq Neuropsiquiatr; 1986 Sep; 44(3):289-92. PubMed ID: 3593038 [Abstract] [Full Text] [Related]
12. The Börjeson-Forssman-Lehmann syndrome. Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL. Am J Med Genet; 1983 Jul; 15(3):457-68. PubMed ID: 6683929 [Abstract] [Full Text] [Related]
13. Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). Boltshauser E, Lange B, Dumermuth G. Brain Dev; 1987 Jul; 9(5):462-5. PubMed ID: 3434721 [Abstract] [Full Text] [Related]
14. A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome. Garcia-Melendo C, Roé E, Rodríguez-Santiago B, Amat-Samaranch V, Cubiró X, Puig L, Boronat S. Pediatr Dermatol; 2021 Jul; 38(4):919-925. PubMed ID: 34041787 [Abstract] [Full Text] [Related]
15. Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient. Majewski F. Am J Med Genet; 2000 Aug 14; 93(4):335-8. PubMed ID: 10946362 [Abstract] [Full Text] [Related]
18. Distinct phenotype of PHF6 deletions in females. Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Eur J Med Genet; 2014 Feb 14; 57(2-3):85-9. PubMed ID: 24380767 [Abstract] [Full Text] [Related]