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Volumn 149, Issue 2, 2009, Pages 246-250

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations

Author keywords

B rjeson Forssman Lehmann; Obesity; PHF6; X inactivation

Indexed keywords

DEXAMPHETAMINE; METHYLPHENIDATE; PROTEIN PHF6; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 59849127236     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32624     Document Type: Article
Times cited : (29)

References (14)
  • 1
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 3
    • 0002540231 scopus 로고
    • An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder
    • Börjeson M, Forssman H, Lehmann O. 1962. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand 171:13-21.
    • (1962) Acta Med Scand , vol.171 , pp. 13-21
    • Börjeson, M.1    Forssman, H.2    Lehmann, O.3
  • 4
    • 33645127572 scopus 로고    scopus 로고
    • Mutation screening in Börjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient
    • Crawford J, Lower KM, Hennekam RCM, Van Esch H, Megarbane A, Lynch SA, Turner G, Gecz J. 2006. Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 43:238-243.
    • (2006) J Med Genet , vol.43 , pp. 238-243
    • Crawford, J.1    Lower, K.M.2    Hennekam, R.C.M.3    Van Esch, H.4    Megarbane, A.5    Lynch, S.A.6    Turner, G.7    Gecz, J.8
  • 6
    • 0033607323 scopus 로고    scopus 로고
    • Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation
    • Kubota T, Oga S, Ohashi H, Iwamoto Y, Fukushima Y. 1999. Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. Am J Med Genet 87:258-261.
    • (1999) Am J Med Genet , vol.87 , pp. 258-261
    • Kubota, T.1    Oga, S.2    Ohashi, H.3    Iwamoto, Y.4    Fukushima, Y.5
  • 10
    • 0036306870 scopus 로고    scopus 로고
    • Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
    • Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF. 2002. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Med Genet 71:168-173.
    • (2002) Am J Med Genet , vol.71 , pp. 168-173
    • Plenge, R.M.1    Stevenson, R.A.2    Lubs, H.A.3    Schwartz, C.E.4    Willard, H.F.5
  • 14
    • 9744220402 scopus 로고    scopus 로고
    • Clinical and behavioural features of patients with Börjeson-Forssman-Lehmann syndrome with mutations in PHF6
    • Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM. 2004. Clinical and behavioural features of patients with Börjeson-Forssman-Lehmann syndrome with mutations in PHF6. J Pediatr 145:819-825.
    • (2004) J Pediatr , vol.145 , pp. 819-825
    • Visootsak, J.1    Rosner, B.2    Dykens, E.3    Schwartz, C.4    Hahn, K.5    White, S.M.6    Szeftel, R.7    Graham, J.M.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.