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Volumn 146, Issue 2, 2008, Pages 245-246

Mowat-Wilson syndrome with craniosynostosis: A case report [1]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; FEMALE; FRAMESHIFT MUTATION; GENE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; KARYOTYPE 46,XX; LETTER; MOWAT WILSON SYNDROME; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ZEB2 GENE;

EID: 37849004083     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32075     Document Type: Letter
Times cited : (10)

References (9)
  • 3
    • 33744828021 scopus 로고    scopus 로고
    • A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    • Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. 2006. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet Part A 140A:1223-1227.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 1223-1227
    • Heinritz, W.1    Zweier, C.2    Froster, U.G.3    Strenge, S.4    Kujat, A.5    Syrbe, S.6    Rauch, A.7    Schuster, V.8
  • 6
    • 33846419505 scopus 로고    scopus 로고
    • Expression of Indian Hedgehog, BMP-4 and Noggin in craniosynostosis induced fetal constraint
    • Jacob S, Wu C, Freeman TA, Koyama E, Kirschner RE. 2007. Expression of Indian Hedgehog, BMP-4 and Noggin in craniosynostosis induced fetal constraint. Ann Plast Surg 58:215-221.
    • (2007) Ann Plast Surg , vol.58 , pp. 215-221
    • Jacob, S.1    Wu, C.2    Freeman, T.A.3    Koyama, E.4    Kirschner, R.E.5
  • 8
    • 33846391646 scopus 로고    scopus 로고
    • Senat M-V, Bussieres L, Couderc S, Roume J, Rozenberg P, Bouyer J, Ville Y. 2007. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 196:53.e1 53.e6
    • Senat M-V, Bussieres L, Couderc S, Roume J, Rozenberg P, Bouyer J, Ville Y. 2007. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 196:53.e1 53.e6
  • 9
    • 21044444074 scopus 로고    scopus 로고
    • Zweier C, Thiel CT, Andrease D, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher R, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kaariainen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mucke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Laowry RB, Rauch A. 2005. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 48:97-111.
    • Zweier C, Thiel CT, Andrease D, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher R, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kaariainen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mucke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Laowry RB, Rauch A. 2005. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 48:97-111.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.