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- W2989531956 abstract "Background: Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. WDR62 gene mutations are the second most common cause of MCPH. Herein, we report a case of primary microcephaly caused by two novel WDR62 mutations, which is, to our knowledge, the first such case report in East Asia. Case presentation: A 6-year-old girl visited our outpatient clinic as a result of microcephaly and delayed development. The patient was born at 36 weeks 4 days through cesarean section. Her birth weight was 1.8 kg (G). The patient’s parents were identified as heterozygous carriers for each variation. Conclusion: We report on two novel heterozygous mutations in East Asia. Our data expand the understanding of WDR62 mutations." @default.
- W2989531956 created "2019-11-22" @default.
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- W2989531956 date "2019-11-07" @default.
- W2989531956 modified "2023-10-16" @default.
- W2989531956 title "Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report" @default.
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- W2989531956 doi "https://doi.org/10.3389/fped.2019.00457" @default.
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