Mosaicism in Marshall Syndrome

被引:8
作者
Ala-Kokko, Leena [2 ]
Shanske, Alan L. [1 ]
机构
[1] Childrens Hosp Montefiore, Albert Einstein Coll Med, Ctr Craniofacial Disorders, Bronx, NY 10467 USA
[2] Connect Tissue Gene Tests, Allentown, PA USA
关键词
SOMATIC MOSAICISM; COL11A1; GENE; MUTATIONS; PATIENT;
D O I
10.1002/ajmg.a.32873
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1327 / 1330
页数:4
相关论文
共 19 条
  • [1] Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
    Annunen, S
    Körkkö, J
    Czarny, M
    Warman, ML
    Brunner, HG
    Kääriäinen, H
    Mulliken, JB
    Tranebjaerg, L
    Brooks, DG
    Cox, GF
    Cruysberg, JR
    Curtis, MA
    Davenport, SLH
    Friedrich, CA
    Kaitila, I
    Krawczynski, MR
    Latos-Bielenska, A
    Mukai, S
    Olsen, BR
    Shinno, N
    Somer, M
    Vikkula, M
    Zlotogora, J
    Prockop, DJ
    Ala-Kokko, L
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : 974 - 983
  • [2] Somatic mosaicism and variable expressivity
    Gottlieb, B
    Beitel, LK
    Trifiro, MA
    [J]. TRENDS IN GENETICS, 2001, 17 (02) : 79 - 82
  • [3] Marshall syndrome associated with a splicing defect at the COL11A1 locus
    Griffith, AJ
    Sprunger, LK
    Sirko-Osadsa, DA
    Tiller, GE
    Meisler, MH
    Warman, ML
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) : 816 - 823
  • [4] Somatic APC mosaicism:: an underestimated cause of polyposis coli
    Hes, F. J.
    Nielsen, M.
    Bik, E. C.
    Konvalinka, D.
    Wijnen, J. T.
    Bakker, E.
    Vasen, H. F. A.
    Breuning, M. H.
    Tops, C. M. J.
    [J]. GUT, 2008, 57 (01) : 71 - 76
  • [5] A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
    Majava, Marja
    Hoornaert, Kristien P.
    Bartholdi, Deborah
    Bouma, Mieke C.
    Bouman, Katelijne
    Carrera, Marta
    Devriendt, Koenraad
    Hurst, Jane
    Kitsos, George
    Niedrist, Dunja
    Petersen, Michael B.
    Shears, Debbie
    Stolte-Dijkstra, Irene
    Van Hagen, J. M.
    Ala-Kokko, Leena
    Mannikko, Minna
    Mortier, Geert R.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (03) : 258 - 264
  • [7] Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
    Melkoniemi, M
    Koillinen, H
    Männikkö, M
    Warman, ML
    Pihlajamaa, T
    Kääriäinen, H
    Rautio, J
    Hukki, J
    Stofko, JA
    Cisneros, GJ
    Krakow, D
    Cohn, DH
    Kere, J
    Ala-Kokko, L
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (03) : 265 - 270
  • [8] Parental Origin and Somatic Mosaicism of PHOX2B Mutations in Congenital Central Hypoventilation Syndrome
    Parodi, Sara
    Bachetti, Tiziana
    Lantieri, Francesca
    Di Duca, Marco
    Santamaria, Giuseppe
    Ottonello, Giancarlo
    Matera, Ivana
    Ravazzolo, Roberto
    Ceccherini, Isabella
    [J]. HUMAN MUTATION, 2008, 29 (01) : 206
  • [9] Somatic Mosaicism in a Patient With Lynch Syndrome
    Pastrello, Chiara
    Fornasarig, Mara
    Pin, Elisa
    Berto, Eleonora
    Pivetta, Barbara
    Viel, Alessandra
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (02) : 212 - 215
  • [10] Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
    Prochazkova, Kamila
    Pavlikova, Kristyna
    Minarik, Marek
    Sumerauer, David
    Kodet, Roman
    Sedlacek, Zdenek
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (02) : 206 - 211