Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
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DOI: 10.1007/s00439-021-02426-5
Abstract: Defective left-right (LR) pattering results in a spectrum of laterality disorders including situs inversus totalis (SIT) and heterotaxy syndrome (Htx). Approximately, 50% of patients with primary ciliary dyskinesia (PCD) displayed SIT. Recessive variants in DNAH9… read more here.
Keywords: complex congenital; left right; defective left; dnah9 mutations ... See more keywords