Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

doi:10.1371/journal.pgen.1002114

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Article

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

PLoS genetics - 1 Jul 2011

Rainger Joe, van Beusekom Ellen, Ramsay Jacqueline K, McKie Lisa, Al-Gazali Lihadh, Pallotta Rosanna, Saponari Anita, Branney Peter, Fisher Malcolm, Morrison Harris, Bicknell Louise, Gautier Philippe, Perry Paul, Sokhi Kishan, Sexton David, Bardakjian Tanya M, Schneider Adele S, Elcioglu Nursel, Ozkinay Ferda, Koenig Rainer, Mégarbané Andre, Semerci C Nur, Khan Ayesha, Zafar Saemah, Hennekam Raoul, Sousa Sérgio B, Ramos Lina, Garavelli Livia, Furga Andrea Superti, Wischmeijer Anita, Jackson Ian J, Gillessen-Kaesbach Gabriele, Brunner Han G, Wieczorek Dagmar, van Bokhoven Hans, Fitzpatrick David R

Abstract excerpt

Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of...

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Identifiers

PMID: 21750680
DOI: 10.1371/journal.pgen.1002114
PMCID: PMC3131273

Genes

SMOC1
SPARC

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.PMID 21750680Read ↗

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