A Missense Variant in LAMA3 Gene Causes Microcephaly and Epidermolysis Bullosa in a Pakistani Family
OBJECTIVE: To identify the disease-causing mutation in a family with autosomal recessive primary microcephaly (MCPH). METHODOLOGY: This cross-sectional study was the continuation of an ongoing family-based study initiated in 2016 at the Department of Biochemistry, Quaid-e-Azam University, Islamabad...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Liaquat University of Medical and Health Sciences
2021-09-01
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| Series: | JLUMHS |
| Subjects: |