Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases...
Principais autores: | Mirza, G, Williams, R, Mohammed, S, Clark, R, Newbury-Ecob, R, Baldinger, S, Flinter, F, Ragoussis, J |
---|---|
Formato: | Journal article |
Idioma: | English |
Publicado em: |
2004
|
Registros relacionados
Registros relacionados
-
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.
por: Davies, A, et al.
Publicado em: (1999) -
Detailed characterisation of six cases with 6p deletions by FISH; delineation of the syndrome.
por: Ragoussis, J, et al.
Publicado em: (1997) -
MOLECULAR CHARACTERIZATION OF 2 CASES WITH INTERSTITIAL 6P DELETIONS
por: Ragoussis, I, et al.
Publicado em: (1995) -
Delineation of two distinct 6p deletion syndromes.
por: Davies, A, et al.
Publicado em: (1999) -
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
por: Godfrey, C, et al.
Publicado em: (2007)