Article
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
European journal of medical genetics - 1 Apr 2015
Pen Anja E, Nyegaard Mette, Fang Mingyan, Jiang Hui, Christensen Rikke, Mølgaard Henning, Andersen Henning, Ulhøi Benedicte Parm, Østergaard John R, Væth Signe, Sommerlund Mette, de Brouwer Arjan P M, Zhang Xiuqing, Jensen Uffe B
Abstract excerpt
We describe a Danish family with an, until recently, unknown X-linked disease with muscular dystrophy (MD), facial dysmorphology and pulmonary artery hypoplasia. One patient died suddenly before age 20 and another was resuscitated from cardiac arrest at the age of 28. Linkage analysis pointed to a region of 25 Mb from 123.6 Mb to 148.4 Mb on chromosome X containing over 100 genes. Exome sequencing identified a...
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