A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Objective: To describe a new autosomal recessive syndrome of CFEOM and ulnar hand abnormalities, and localise the disease causing gene. Methods: Clinical evaluation of the affected members and positional mapping. Results: Six affected patients with CFEOM/U (aged 2 to 29 years) from a large consangui...

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Hlavní autoři: Tukel, T, Uzumcu, A, Gezer, A, Kayserili, H, Yuksel-Apak, M, Uyguner, O, Gultekin, S, Hennies, H, Nurnberg, P, Desnick, R, Wollnik, B
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2005
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736053/
https://ncbi.nlm.nih.gov/pubmed/15863670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.026138
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