McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family

McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto...

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Autors principals: Chetta, Massimiliano, Bukvic, Nenad, Bafunno, Valeria, Sarno, Michelina, Magaldi, Rosario, Grilli, Gianpaolo, Bertozzi, Vincenzo, Perfetto, Francesco, Margaglione, Maurizio
Format: Artigo
Idioma:Inglês
Publicat: Medknow Publications 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214326/
https://ncbi.nlm.nih.gov/pubmed/22090721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.86194
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