A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at =0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval
β¦ LIBER β¦
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
β Scribed by FE Abidi; MG Miano; JC Murray; CE Schwartz
- Book ID
- 110888411
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 176 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
X-linked mental retardation associated w
β
Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van
π
Article
π
1999
π
John Wiley and Sons
π
English
β 46 KB
π 1 views
Screening of mutations in the PHF8 gene
β
AM Koivisto; S Ala-Mello; S LemmelΓ€; HA Komu; J Rautio; I JΓ€rvelΓ€
π
Article
π
2007
π
John Wiley and Sons
π
English
β 322 KB
Mutation of PVRL1 is associated with spo
β
SΓΆzen, Mehmet A.; Suzuki, Koji; Tolarova, Marie M.; Bustos, Tania; Iglesias, Jes
π
Article
π
2001
π
Nature Publishing Group
π
English
β 94 KB
X-linked mental retardation syndrome wit
β
Armfield, Kim; Nelson, Retecher; Lubs, Herbert A.; HοΏ½ne, Bernhard; Schroer, Rich
π
Article
π
1999
π
John Wiley and Sons
π
English
β 51 KB
π 2 views
Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retar
A novel nonsense mutation in CUL4B gene
β
M Badura-Stronka; A Jamsheer; A Materna-Kiryluk; A SowiΕska; K Kiryluk; B Budny;
π
Article
π
2010
π
John Wiley and Sons
π
English
β 540 KB
Duplication of (2)(q11.1-q13.2) in a boy
β
Riegel, Mariluce ;Schinzel, Albert
π
Article
π
2002
π
John Wiley and Sons
π
English
β 156 KB
π 1 views