Phenotypic diversity in clinical and manometric characteristics of pediatric patients with ACTG2 mutations
Heterogenous missense variants in ACTG2 have been identified in individuals with visceral myopathy and megacystis, microcolon, intestinal hypoperistalsis syndrome (MMIHS). Though varying degrees of severity of chronic intestinal pseudo obstruction have been correlated to the disease phenotype when A...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2021-03-01T00:00:00Z.
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| Subjects: | |
| 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 |