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Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.
Birth Defects Research ( IF 2.1 ) Pub Date : 2020-04-29 , DOI: 10.1002/bdr2.1699
Jennifer M Gass 1 , Barbara B Head 2 , Sally M Shields 2 , Roger E Stevenson 1 , Raymond J Louie 1
Affiliation  

Hydrocephalus is characterized by increased cerebrospinal fluid within the brain, a causally heterogeneous disorder estimated to affect 1 per 1,000 live births, with the most severe cases often leading to fetal demise. The large number of known genetic and environmental factors that contribute to hydrocephalus makes the differential diagnosis challenging.

中文翻译:

与 TRAPPC12 中复合杂合子改变相关的脑积水。

脑积水的特征是脑内脑脊液增加,这是一种因果异质性疾病,估计每 1,000 名活产婴儿中就有 1 人受到影响,最严重的病例通常会导致胎儿死亡。大量已知的导致脑积水的遗传和环境因素使得鉴别诊断具有挑战性。
更新日期:2020-04-29
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