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Article

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2013

Shamseldin Hanan E, Swaid Abdulrahman, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Mendelian phenotypes in humans vary from benign variants to lethal disorders. Embryonic lethal phenotypes that are similar to what has been known for a long time in mice have remained largely unknown because of the difficulty in arriving at a molecular diagnosis. The purpose of this study is to test whether next generation sequencing can reveal the underlying etiology of recurrent fetal loss. METHODS: We...

Topics

Abortion, Habitual
Amino Acid Sequence
Base Sequence
Consanguinity
Consensus Sequence
Exome
Female
Fetal Death
High-Throughput Nucleotide Sequencing
Humans
Hydrops Fetalis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Phenotype

Receptors, Nicotinic

Sequence Alignment

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 23037934
DOI: 10.1038/gim.2012.130
PMCID: PMC3908556

Genes

CHRNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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