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Volumn 152, Issue 3, 2010, Pages 737-740

c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient

Author keywords

Ankyloglossia; Distichiasis; FOXC2; Glossoptosis; Lymphedema; Robin sequence

Indexed keywords

CYTOSINE; TRANSCRIPTION FACTOR FOXC2;

EID: 77649227668     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33273     Document Type: Article
Times cited : (9)

References (13)
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    • The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
    • Berry FB, Tamimi Y, Carle MV, Lehmann OJ, Walter MA. 2005. The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis. Hum Mol Genet 14: 2619-2627.
    • (2005) Hum Mol Genet , vol.14 , pp. 2619-2627
    • Berry, F.B.1    Tamimi, Y.2    Carle, M.V.3    Lehmann, O.J.4    Walter, M.A.5
  • 4
    • 65749112575 scopus 로고    scopus 로고
    • Diagnosis and therapy in children with lymphoedema
    • Damstra RJ, Mortimer PS. 2008. Diagnosis and therapy in children with lymphoedema. Phlebology 23:276-286.
    • (2008) Phlebology , vol.23 , pp. 276-286
    • Damstra, R.J.1    Mortimer, P.S.2
  • 5
    • 58749113281 scopus 로고    scopus 로고
    • Novel FOXC2 missense mutation identified in patient with lymphedema - distichiasis syndrome and review
    • Dellinger MT, Thome K, Bernas MJ, Erickson RP, Witte MH. 2008. Novel FOXC2 missense mutation identified in patient with lymphedema - distichiasis syndrome and review. Lymphology 41: 98-102.
    • (2008) Lymphology , vol.41 , pp. 98-102
    • Dellinger, M.T.1    Thome, K.2    Bernas, M.J.3    Erickson, R.P.4    Witte, M.H.5
  • 9
    • 15044348467 scopus 로고    scopus 로고
    • Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
    • Ng MY, Andrew T, Spector TD, Jeffery S. 2005. Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs. J Med Genet 42:235-239.
    • (2005) J Med Genet , vol.42 , pp. 235-239
    • Ng, M.Y.1    Andrew, T.2    Spector, T.D.3    Jeffery, S.4
  • 10
    • 0027157946 scopus 로고
    • Distichiasis: Management with cryotherapy to the posterior lamella
    • O'Donnell PA, Collin JR. 1993. Distichiasis: Management with cryotherapy to the posterior lamella. Br J Ophthalmol 77:289-292.
    • (1993) Br J Ophthalmol , vol.77 , pp. 289-292
    • O'Donnell, P.A.1    Collin, J.R.2
  • 12
    • 0028217099 scopus 로고
    • Distichiasis-lymphoedema: A family report
    • Temple IK, Collin JR. 1994. Distichiasis-lymphoedema: A family report. Clin Dysmorphol 3:132-142.
    • (1994) Clin Dysmorphol , vol.3 , pp. 132-142
    • Temple, I.K.1    Collin, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.