Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
about
Phenotypic subregions within the split-hand/foot malformation 1 locus.Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
P2860
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P2860
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
description
2007 nî lūn-bûn
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name
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@en
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@nl
type
label
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@en
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@nl
prefLabel
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@en
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@nl
P2093
P356
P1476
Characterization of a 16 Mb in ...... tion by tiling path array CGH.
@en
P2093
Andreas Tzschach
Christine Petzenhauser
Corinna Menzel
Fikret Erdogan
Gotthold Barbi
Hans-Hilger Ropers
Marei Schubert
Reinhard Ullmann
P304
P356
10.1002/AJMG.A.31601
P407
P577
2007-02-01T00:00:00Z