Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic variants responsible for MCPH2 and the comorbidities....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hormozgan University of Medical Sciences
2022-12-01
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| Series: | Disease and Diagnosis |
| Subjects: | |
| Online Access: | https://ddj.hums.ac.ir/PDF/ddj-11-142.pdf |