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issn 1750-1172
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publicationName Orphanet Journal of Rare Diseases
startingPage 27
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bibliographicCitation Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet Journal of Rare Diseases. 2012 May 15;7(1):27. doi: 10.1186/1750-1172-7-27.
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date 2012-05-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/PMC3492204
https://pubmed.ncbi.nlm.nih.gov/22587682
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language English
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https://pubmed.ncbi.nlm.nih.gov/
title A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
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Total number of triples: 39.