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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Detalles Bibliográficos
Autores principales: Sai Chandar, Dudipala, Krishna Chaithanya, Battu, Prashanthi, Mandapuram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163346/
https://www.ncbi.nlm.nih.gov/pubmed/34084664
http://dx.doi.org/10.7759/cureus.14727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163346/
https://www.ncbi.nlm.nih.gov/pubmed/34084664
http://dx.doi.org/10.7759/cureus.14727

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