Evidence for possible Mendelian inheritance of septo-optic dysplasia.
作者信息
Wales J K, Quarrell O W
机构信息
University Department of Paediatrics, Sheffield Children's Hospital, UK.
出版信息
Acta Paediatr. 1996 Mar;85(3):391-2. doi: 10.1111/j.1651-2227.1996.tb14044.x.
Abstract
We describe two siblings from a highly consanguineous pedigree with absent mid-line brain structures and hypopituitarism. This raises the possibility of a heritable basis for at least some forms of the septo-optic dysplasia sequence.
摘要
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