‡a
wholeexomesequencingaidsthediagnosisofsimpsongolabibehmelsyndromein2malefetuses
‡A
Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses
‡9
1
‡a
2heterozygousmutationsintheercc6geneassociatedwithcockaynesyndromeinachinesepatient
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Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
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1
