19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsuf...
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
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Publisher
Basingstoke: Nature Publishing Group
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Language
English
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Basingstoke: Nature Publishing Group
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Contents
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 genome-wide screening we detected an interstitial...
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Full title
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3400733
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3400733
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.19
