Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

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Bibliographic Details
Published inAmerican Journal of Medical Genetics Part A Vol. 136A; no. 2; pp. 185 - 189
Main Authors Tufan, Fatih, Cefle, Kivanc, Türkmen, Seval, Türkmen, Aydin, Zorba, Unal, Dursun, Memduh, Oztürk, Sükrü, Palandüz, Sükrü, Ecder, Tevfik, Mundlos, Stefan, Horn, Denise
Format Report
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.07.2005
Subjects
autosomal recessive Robinow syndrome
gonadotropic hormones
hypocitraturia
mesomelia
nephrocalcinosis
rudimentary kidney
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Bibliography:ark:/67375/WNG-JS0D5L8X-M
Fatih Tufan and Denise Horn have contributed equally to the manuscript.
istex:8CAB6D52E7D4C403761B0621F151291059946272
ArticleID:AJMG30785
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30785