लोड हो रहा है...
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, m...
में बचाया:
| में प्रकाशित: | Am J Med Genet A |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2015
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6108425/ https://ncbi.nlm.nih.gov/pubmed/25920937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37129 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|