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Article

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

American journal of human genetics - 8 Jan 2015

Slavotinek Anne, Kaylor Julie, Pierce Heather, Cahr Michelle, DeWard Stephanie J, Schneidman-Duhovny Dina, Alsadah Adnan, Salem Fadi, Schmajuk Gabriela, Mehta Lakshmi

Abstract excerpt

We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25557780
DOI: 10.1016/j.ajhg.2014.11.013
PMCID: PMC4289687

Genes

CRB2
NPHS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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