Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Abstract Background Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cereb...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: BMC 2017-12-01
Цуврал:BMC Medical Genetics
Нөхцлүүд:
Cerebellar syndrome
Cerebral atrophy
Developmental delay
GRID2 gene
GluD2
Whole exome sequencing
Онлайн хандалт:http://link.springer.com/article/10.1186/s12881-017-0504-6

Интернэт

http://link.springer.com/article/10.1186/s12881-017-0504-6

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