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Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is a rare genetic disorder, characterized by infantile-onset epilepsy, hypotonia, global developmental delay, dysmorphic features, and variable congenital anomalies involving the cardiac, skeletal, and genitourinary systems. It is...

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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Sai Chandar, Dudipala, Krishna Chaithanya, Battu, Prashanthi, Mandapuram
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8163346/
https://ncbi.nlm.nih.gov/pubmed/34084664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.14727
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