메뉴 건너뛰기




Volumn 80, Issue 2, 1998, Pages 145-156

FG syndrome: Report of three new families with linkage to Xq12-q22.1

Author keywords

Agenesis of the corpus callosum; Congenital hypotonia; Constipation; FG syndrome; Macrocephaly; X linked mental retardation

Indexed keywords

ANUS ATRESIA; ARTICLE; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL SYNOSTOSIS; GENETIC LINKAGE; HAND MALFORMATION; HUMAN; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SYNDROME FG; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0031791038     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:2<145::AID-AJMG11>3.0.CO;2-3     Document Type: Article
Times cited : (35)

References (29)
  • 3
    • 0020623189 scopus 로고
    • Two retarded male cousins with odd facies, hypotonia, and severe constipation: Possible examples of the X linked FG syndrome
    • Burn J, Martin N (1983): Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. J Med Genet 20:97-99.
    • (1983) J Med Genet , vol.20 , pp. 97-99
    • Burn, J.1    Martin, N.2
  • 7
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995): Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837-845.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 8
    • 0026091916 scopus 로고
    • A newly defined X linked mental retardation syndrome associated with alphathalassaemia
    • Gibbons RJ, Wilkie AO, Weatherall DJ, Higgs DR (1991): A newly defined X linked mental retardation syndrome associated with alphathalassaemia. J Med Genet 28:1729-1733.
    • (1991) J Med Genet , vol.28 , pp. 1729-1733
    • Gibbons, R.J.1    Wilkie, A.O.2    Weatherall, D.J.3    Higgs, D.R.4
  • 10
    • 0017228081 scopus 로고
    • A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities
    • Keller MA, Jones KL, Nyhan WL, Francke U, Dixson B (1976): A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediat 88:589-591.
    • (1976) J Pediat , vol.88 , pp. 589-591
    • Keller, M.A.1    Jones, K.L.2    Nyhan, W.L.3    Francke, U.4    Dixson, B.5
  • 12
    • 0029123556 scopus 로고
    • Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
    • May M, Colleaux L, Murgia A, Aylsweorth A, Nussbaum R, Fontes M, Schwartz C (1995): Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466.
    • (1995) Hum Mol Genet , vol.4 , pp. 1465-1466
    • May, M.1    Colleaux, L.2    Murgia, A.3    Aylsweorth, A.4    Nussbaum, R.5    Fontes, M.6    Schwartz, C.7
  • 14
    • 0021744341 scopus 로고
    • Sensorineural deafness in the FG syndrome: Report on four new cases
    • Neri G, Blumberg B, Miles PV, Opitz JM (1984): Sensorineural deafness in the FG syndrome: report on four new cases. Am J Med Genet 19:369-377.
    • (1984) Am J Med Genet , vol.19 , pp. 369-377
    • Neri, G.1    Blumberg, B.2    Miles, P.V.3    Opitz, J.M.4
  • 15
    • 0016364728 scopus 로고
    • The FG syndrome: An X-linked recessive syndrome of multiple congenital anomalies and mental retardation
    • Opitz JM, Kaveggia EG (1974): The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z. Kinderheilk 117:1-18.
    • (1974) Z. Kinderheilk , vol.117 , pp. 1-18
    • Opitz, J.M.1    Kaveggia, E.G.2
  • 16
    • 0020057497 scopus 로고
    • Studies of malformation syndromes of humans. XXXIIIC: The FG syndrome - Further studies on three affected individuals from the FG family
    • Opitz JM, Kaveggia EG, Adkins WN Jr., Gilbert EF, Viseskul C, Pettersen JC, Blumberg B (1982): Studies of malformation syndromes of humans. XXXIIIC: The FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet 12:147-154.
    • (1982) Am J Med Genet , vol.12 , pp. 147-154
    • Opitz, J.M.1    Kaveggia, E.G.2    Adkins Jr., W.N.3    Gilbert, E.F.4    Viseskul, C.5    Pettersen, J.C.6    Blumberg, B.7
  • 17
  • 19
    • 0017674162 scopus 로고
    • The FG syndrome: Further characterization, report of a third family, and of a sporadic case
    • Riccardi V M, Hassler E, Lubinsky M S (1977): The FG syndrome: further characterization, report of a third family, and of a sporadic case. Am J Med Genet 1:47-58.
    • (1977) Am J Med Genet , vol.1 , pp. 47-58
    • Riccardi, V.M.1    Hassler, E.2    Lubinsky, M.S.3
  • 20
    • 0022946119 scopus 로고
    • FG syndrome in Brazilian child with additional previously unreported signs
    • Richieri-Costa A (1986). FG syndrome in Brazilian child with additional previously unreported signs. Am J Genet 2(suppl):247-254.
    • (1986) Am J Genet , vol.2 , Issue.SUPPL. , pp. 247-254
    • Richieri-Costa, A.1
  • 21
    • 0028294654 scopus 로고
    • A clinical follow-up of British patients with FG syndrome
    • Romano C, Baraitser M, Thompson E (1994): A clinical follow-up of British patients with FG syndrome. Clin Dysmorphol 3:104-114.
    • (1994) Clin Dysmorphol , vol.3 , pp. 104-114
    • Romano, C.1    Baraitser, M.2    Thompson, E.3
  • 24
    • 0030009791 scopus 로고    scopus 로고
    • High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
    • Thomas G (1996): High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Genet 58:1364-1368.
    • (1996) Am J Genet , vol.58 , pp. 1364-1368
    • Thomas, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.