Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1

Split–hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenot...

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Detalhes bibliográficos
Main Authors: Naveed, Mohammed, Nath, Swapan K., Gaines, Mathew, Al-Ali, Mahmoud T., Al-Khaja, Najib, Hutchings, David, Golla, Jeffrey, Deutsch, Samuel, Bottani, Armand, Antonarakis, Stylianos E., Ratnamala, Uppala, Radhakrishna, Uppala
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785322/
https://ncbi.nlm.nih.gov/pubmed/17160898
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