eP116: Yield of exome sequencing in patients with abnormal head size

Aradhana Dwivedi, Jyotindra Goswami, Lakshita Chauhan

Genetics in Medicine（2022）

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摘要

Head size is a valuable index of brain growth, and its disturbances can indicate different disorders of nervous system. Abnormal increase (macrocephaly) or decrease (microcephaly) in head circumference is seen in many monogenic disorders.

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关键词

abnormal head size,exome

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