Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
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DOI: 10.1002/mgg3.1849
Abstract: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia. read more here.
Keywords: cracking saga; consanguineous kindred; congenital hypotonia; hypotonia ... See more keywords