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Article

CATCHing putative causative variants in consanguineous families.

BMC bioinformatics - 28 Sept 2015

Santoni Federico Andrea, Makrythanasis Periklis, Antonarakis Stylianos E

Abstract excerpt

BACKGROUND: Consanguinity is an important risk factor for autosomal recessive (AR) disorders. Extended genomic regions identical by descent (IBD) in the offspring of consanguineous parents give rise to recessive disorders with identical (homozygous) pathogenic variants in both alleles. However, many clinical phenotypes presenting in the offspring of consanguineous couples are still of unknown etiology. Nowadays...

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PMID: 26415661
DOI: 10.1186/s12859-015-0727-5
PMCID: PMC4587650

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FGFR3

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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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