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Article

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BMC medical genetics - 22 Dec 2016

Porsch Robert M, Merello Elisa, De Marco Patrizia, Cheng Guo, Rodriguez Laura, So Manting, Sham Pak C, Tam Paul K, Capra Valeria, Cherny Stacey S, Garcia-Barcelo Maria-Mercè, Campbell Desmond D

Abstract excerpt

BACKGROUND: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and...

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Share to Abnormalities, Multiple
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28007035
DOI: 10.1186/s12881-016-0359-2
PMCID: PMC5178083

Genes

CLTCL1
PDZD2
SPTBN5
PTEN
VANGL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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