A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by t...
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia.
The patient in this case was a boy b...
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Full title
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
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TN_cdi_doaj_primary_oai_doaj_org_article_45dfce9fcf56410f93e3ce3bd06b9521
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_45dfce9fcf56410f93e3ce3bd06b9521
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-018-0546-4
