Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2013
Sujets:
Case Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3885256/
https://ncbi.nlm.nih.gov/pubmed/24416505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.11
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