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Article

Genomic analysis of primordial dwarfism reveals novel disease genes.

Genome research - 1 Feb 2014

Shaheen Ranad, Faqeih Eissa, Ansari Shinu, Abdel-Salam Ghada, Al-Hassnan Zuhair N, Al-Shidi Tarfa, Alomar Rana, Sogaty Sameera, Alkuraya Fowzan S

Abstract excerpt

Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24389050
DOI: 10.1101/gr.160572.113
PMCID: PMC3912419

Genes

BRCA2
DNA2
XRCC4

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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