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De Novo Mutations In Smchd1 Cause Bosma Arhinia Microphthalmia Syndrome And Abrogate Nasal Development
(Nature Publishing Group, 2017)
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic ...
Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
(B M J Publishing Group, 2011)
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...