Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly
Abstract Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic mutations in the ASPM gene to understa...
| Những tác giả chính: | , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
| Được phát hành: |
Instituto Internacional de Ecologia
2021-08-01
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| Loạt: | Brazilian Journal of Biology |
| Những chủ đề: | |
| Truy cập trực tuyến: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-69842023000100151&tlng=en |