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Article

Growth in individuals with Saul-Wilson syndrome.

American journal of medical genetics. Part A - 1 Sept 2020

Ferreira Carlos R, Niiler Timothy, Duker Angela L, Jackson Andrew P, Bober Michael B

Abstract excerpt

Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. Recently, recurrent mutations in COG4, encoding a component of the Conserved Oligomeric Golgi (COG) complex, were identified. We created detailed growth curves for...

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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: 32652690
DOI: 10.1002/ajmg.a.61754
PMCID: PMC9016779

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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