Bonioli E, Palmieri A, Bertola A, Bellini C
Istituto di Clinica Pediatrica, Università di Genova, Italia.
Genet Couns. 1995;6(4):309-12.
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.
一种类似科芬-西里斯综合征的常染色体隐性遗传模式:科芬-西里斯综合征是一种罕见的智力发育迟缓/多发性先天性异常综合征;迄今为止,其遗传模式仍存在争议。我们报告了一名受该综合征影响的儿童,其家系与常染色体隐性遗传一致。