Three novel <em>GJA1</em> missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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*Three novel GJA1* missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum**

Authors:	Aleksander Jamsheer Anna Sowińska-Seidler Magdalena Socha Agnieszka Stembalska Cathy Kiraly-Borri Anna Latos-Bieleńska

Institution:	1. Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland;2. NZOZ Center for Medical Genetics GENESIS, Poznan, Poland;3. Department of Genetics, Wroclaw Medical University, Wroclaw, Poland;4. Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Subiaco, Australia

Abstract:

Keywords:	ASD atrial septal defect AVSD atrioventricular septal defect CHD congenital heart defect Cx43 connexin 43 EVS exome variant server FISH fluorescent in situ hybridization GJA1 gap junction alpha 1 gene GJPA1 gap junction alpha 1 pseudogene HGMD human gene mutation database HLHS hypoplastic left heart syndrome MRI magnetic resonance imaging ODDD oculo-dento-digital dysplasia ODDS oculo-dento-digital syndrome PCR polymerase chain reaction SDTY3 syndactyly type 3 SIFT sorting intolerant from tolerant SNV single nucleotide variant VSD ventricular septal defect
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