Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

do Rosario, Michelle C; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju

do Rosario, Michelle C; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju.

Afiliación

do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Clin Dysmorphol ; 31(4): 196-200, 2022 10 01.

Article en En | MEDLINE | ID: mdl-35445667

Asunto(s)

Epilepsia Generalizada; Glicosilfosfatidilinositoles; Homocigoto; Humanos; Proteínas de la Membrana/genética; Mutación

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Glicosilfosfatidilinositoles Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: India

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google