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Article

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

21 Jul 2004

Abstract excerpt

We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the...

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Identifiers

PMID: 15326634
DOI: 10.1002/ajmg.a.30177

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