Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

Previously, our group reported a five-generation family in which a balanced t(13;17) translocation is associated with a spectrum of skeletal abnormalities, including Robin sequence, hypoplastic scapulae, and a missing pair of ribs. Using polymerase chain reaction (PCR) with chromosome-specific marke...

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Bibliografiske detaljer
Main Authors: Hill-Harfe, Katherine L., Kaplan, Lee, Stalker, Heather J., Zori, Roberto T., Pop, Ramona, Scherer, Gerd, Wallace, Margaret R.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2005
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199303/
https://ncbi.nlm.nih.gov/pubmed/15717285
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