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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: Couser, Natario L., Masood, Maheer M., Strande, Natasha T., Foreman, Ann Katherine M., Crooks, Kristy, Weck, Karen E., Lu, Mei, Wilhelmsen, Kirk C., Roche, Myra, Evans, James P., Berg, Jonathan S., Powell, Cynthia M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa: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
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