19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital malformations in males (hypospadias) represent the phenotypic core of the recent emerging 19q13.11 deletion syndrome. Using array-CGH for...

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Detalles Bibliográficos
Autores principales: Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400733/
https://www.ncbi.nlm.nih.gov/pubmed/22378287
http://dx.doi.org/10.1038/ejhg.2012.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400733/
https://www.ncbi.nlm.nih.gov/pubmed/22378287
http://dx.doi.org/10.1038/ejhg.2012.19

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