Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2016-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |