A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
Abstract Background 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 pat...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |