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Article

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

American journal of human genetics - 9 Jul 2010

Isidor Bertrand, Pichon Olivier, Redon Richard, Day-Salvatore Debra, Hamel Antoine, Siwicka Karolina A, Bitner-Glindzicz Maria, Heymann Dominique, Kjellén Lena, Kraus Cornelia, Leroy Jules G, Mortier Geert R, Rauch Anita, Verloes Alain, David Albert, Le Caignec Cédric

Abstract excerpt

Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations. So far, five patients in four unrelated families have been reported worldwide with MMS. By using whole-genome oligonucleotide array CGH, we have identified an...

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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: 20602915
DOI: 10.1016/j.ajhg.2010.05.012
PMCID: PMC2896765

Genes

SULF1

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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