Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive [version 1; referees: 2 approved]
Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing wit...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
F1000 Research Ltd
2017-12-01
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| سلاسل: | F1000Research |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://f1000research.com/articles/6-2163/v1 |
| الوسوم: |
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