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Discordant monozygotic twins for macrocephaly-capillary malformation

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Lederer, Damien [UCL] Rack, Katrina Boulanger, Sébastien Battisti, Oreste Verellen-Dumoulin, Christine [UCL]
Document type Article de périodique (Journal article) – Lettre à l'éditeur
Access type Accès restreint
Publication date 2012
Language Anglais
Journal information "American Journal of Medical Genetics. Part A" - Vol. 158 A, no. 6, p. 1509-1511 (2012)
Peer reviewed yes
Publisher JohnWiley & Sons, Inc. ((United States) Hoboken, NY)
issn 1552-4825
e-issn 1552-4833
Publication status Publié
Affiliations UCL - (SLuc) Centre de génétique médicale UCL
UCL - (SLuc) Service de pédiatrie spécialisée
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  1. CLAYTON-SMITH J, KERR B, BRUNNER H, TRANEBJAERG L, MAGEE A, HENNEKAM R C M, MUELLER R F, BRUETON L, SUPER M, STEEN-JOHNSEN J, DONNAI D, Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome : , 10.1097/00019605-199710000-00001
  2. Conway Robert L., Pressman Barry D., Dobyns William B., Danielpour Moise, Lee John, Sanchez-Lara Pedro A., Butler Merlin G., Zackai Elaine, Campbell Lindsey, Saitta Sulagna C., Clericuzio Carol L., Milunsky Jeff M., Hoyme H. Eugene, Shieh Joseph, Moeschler John B., Crandall Barbara, Lauzon Julie L., Viskochil David H., Harding Brian, Graham John M., Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients, 10.1002/ajmg.a.32040
  3. Franceschini P., Licata D., Di Cara G., Guala A., Franceschini D., Genitori L., Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?, 10.1002/(sici)1096-8628(20000214)90:4<265::aid-ajmg1>3.0.co;2-s
  4. Gripp Karen W., Hopkins Elizabeth, Vinkler Chana, Lev Dorit, Malinger Gustavo, Lerman-Sagie Tally, Dobyns William B., Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes, 10.1002/ajmg.a.32732
  5. Lapunzina Pablo, Gairí Alba, Delicado Alicia, Mori M. Angeles, Torres M. Luisa de, Goma Anton, Navia Marcelo, Pajares Isidora López, Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review : Macrocephaly-Cutis Marmorata Telangiectatica Congenita, 10.1002/ajmg.a.30235
  6. Lindhurst Marjorie J., Sapp Julie C., Teer Jamie K., Johnston Jennifer J., Finn Erin M., Peters Kathryn, Turner Joyce, Cannons Jennifer L., Bick David, Blakemore Laurel, Blumhorst Catherine, Brockmann Knut, Calder Peter, Cherman Natasha, Deardorff Matthew A., Everman David B., Golas Gretchen, Greenstein Robert M., Kato B. Maya, Keppler-Noreuil Kim M., Kuznetsov Sergei A., Miyamoto Richard T., Newman Kurt, Ng David, O'Brien Kevin, Rothenberg Steven, Schwartzentruber Douglas J., Singhal Virender, Tirabosco Roberto, Upton Joseph, Wientroub Shlomo, Zackai Elaine H., Hoag Kimberly, Whitewood-Neal Tracey, Robey Pamela G., Schwartzberg Pamela L., Darling Thomas N., Tosi Laura L., Mullikin James C., Biesecker Leslie G., A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome, 10.1056/nejmoa1104017
  7. Martínez-Glez Víctor, Romanelli Valeria, Mori María A., Gracia Ricardo, Segovia Mabel, González-Meneses Antonio, López-Gutierrez Juan C., Gean Esther, Martorell Loreto, Lapunzina Pablo, Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria, 10.1002/ajmg.a.33514
  8. Moore Cynthia A., Toriello Helga V., Abuelo Dianne N., Bull Marilyn J., Curry Cynthia J. R., Hall Bryan D., Higgins James V., Stevens Cathy A., Twersky Sivya, Weksberg Rosanna, Dobyns William B., Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities, 10.1002/(sici)1096-8628(19970502)70:1<67::aid-ajmg13>3.0.co;2-v
  9. Papetti Laura, Tarani Luigi, Nicita Francesco, Ruggieri Martino, Mattiucci Chiara, Mancini Francesca, Ursitti Fabiana, Spalice Alberto, Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria, 10.1016/j.braindev.2011.02.001
  10. Robertson Stephen P., Gattas Michael, Rogers Maureen, Adès Lesley C., Macrocephaly — cutis marmorata telangiectatica congenita : report of five patients and a review of the literature, 10.1097/00019605-200009010-00001
  11. Tierling S, Souren NY, Reither S, Zang KD, Meng-Hentschel J, Leitner D, Oehl-Jaschkowitz B, Walter J, DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome, 10.1111/j.1399-0004.2010.01482.x
  12. Toriello Helga V., Mulliken John B., Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM), 10.1002/ajmg.a.31971
  13. Wright Dakara Rucker, Frieden Ilona J., Orlow Seth J., Shin Helen T., Chamlin Sarah, Schaffer Julie V., Paller Amy S., The Misnomer “Macrocephaly–Cutis Marmorata Telangiectatica Congenita Syndrome” : Report of 12 New Cases and Support for Revising the Name to Macrocephaly–Capillary Malformations, 10.1001/archdermatol.2008.545
  14. Yano Shoji, Watanabe Yoriko, Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome, 10.1002/ajmg.1428
Bibliographic reference Lederer, Damien ; Rack, Katrina ; Boulanger, Sébastien ; Battisti, Oreste ; Verellen-Dumoulin, Christine. Discordant monozygotic twins for macrocephaly-capillary malformation. In: American Journal of Medical Genetics. Part A, Vol. 158 A, no. 6, p. 1509-1511 (2012)
Permanent URL http://hdl.handle.net/2078.1/164266