Literature DB >> 1746603

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.

L S Chitty1, R McCrimmon, I K Temple, I M Russell-Eggitt, M Baraitser.   

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Year:  1991        PMID: 1746603     DOI: 10.1002/ajmg.1320400407

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


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  1 in total

1.  A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Authors:  Jirair K Bedoyan; Marci M Lesperance; Todd Ackley; Ramaswamy K Iyer; Jeffrey W Innis; Vinod K Misra
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

  1 in total

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