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Article

Expansion of phenotype and genotypic data in CRB2-related syndrome.

European journal of human genetics : EJHG - 1 Oct 2016

Lamont Ryan E, Tan Wen-Hann, Innes A Micheil, Parboosingh Jillian S, Schneidman-Duhovny Dina, Rajkovic Aleksandar, Pappas John, Altschwager Pablo, DeWard Stephanie, Fulton Anne, Gray Kathryn J, Krall Max, Mehta Lakshmi, Rodan Lance H, Saller Devereux N, Steele Deanna, Stein Deborah, Yatsenko Svetlana A, Bernier François P, Slavotinek Anne M

Abstract excerpt

Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. All reported patients have been homozygotes or compound heterozygotes for sequence variants in the Crumbs, Drosophila, Homolog of, 2 (CRB2) genes. Variants affecting CRB2 function have...

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Identifiers

PMID: 27004616
DOI: 10.1038/ejhg.2016.24
PMCID: PMC5027675

Genes

CRB2
BBS7
NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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