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Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Congenital anomalies - 1 Jan 2017

Kornacki Jakub, Sowińska-Seidler Anna, Socha Magdalena, Ropacka Mariola, Jamsheer Aleksander

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Share to Consanguinity
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Share to Extracellular Matrix Proteins
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation, Missense

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 27341656
DOI: 10.1111/cga.12177

Genes

FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.PMID 27341656Read ↗

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Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome.Semantic proximity Read ↗

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Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.Semantic proximity Read ↗

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Fraser syndrome due to homozygosity for a splice site mutation of FREM2.Semantic proximity Read ↗

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