Literature DB >> 9605293

Achondroplasia associated with Down syndrome.

G Carakushansky, S Rosembaum, M G Ribeiro, E Kahn, M Carakushansky.   

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Year:  1998        PMID: 9605293     DOI: 10.1002/(sici)1096-8628(19980501)77:2<168::aid-ajmg12>3.0.co;2-l

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  1 in total

1.  Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.

Authors:  Katja Dumic; Ingeborg Barisic; Kristina Potocki; Ivona Sansovic
Journal:  J Appl Genet       Date:  2011-01-12       Impact factor: 3.240

  1 in total

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