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A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

BACKGROUND: Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyo...

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Detalles Bibliográficos
Autores principales: Hinkes, Bernward, Hilgers, Karl F, Bolz, Hanno J, Goppelt-Struebe, Margarete, Amann, Kerstin, Nagl, Sandra, Bergmann, Carsten, Rascher, Wolfgang, Eckardt, Kai-Uwe, Jacobi, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412739/
https://www.ncbi.nlm.nih.gov/pubmed/22583611
http://dx.doi.org/10.1186/1471-2369-13-27