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Article

Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.

American journal of medical genetics. Part A - 1 Jul 2024

Kong Xiangtian, Xu Jian, Yin Honggang, Jiang Hongru, Cao Xian, Cui Aimin, Wang Xueqian

Abstract excerpt

Primary microcephaly is characterized by a head circumference prenatally or at birth that falls below three standard deviations from age-, ethnic-, and sex-specific norms. Genetic defects are one of the underlying causes of primary microcephaly. Since 2014, five variants of the SASS6 gene have been identified as the cause of MCPH 14 in three reported families. In this study, we present the genetic findings of...

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PMID: 38501757
DOI: 10.1002/ajmg.a.63598

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