Clinical and Molecular Analysis of Arylsulfatase E in Patients with Brachytelephalangic Chondrodysplasia Punctata

Michelle Nino, Claudia Matos-Miranda, Momoe Maeda,Li Chen,Judith Allanson,Christine Armour,Carol Greene,Majeeda Kamaluddeen, Debra Rita,Livija Medne,Elaine Zackai,Sahar Mansour,Andrea Superti-Furga,Amy Lewanda,Michael Bober,Kenneth Rosenbaum,Nancy Braverman

American journal of medical genetics Part A（2008）

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chondrodysplasia punctata,brachytelephalangic chondrodysplasia punctata,arylsulfatase E,CDPX1,mutation analysis,vitamin K deficiency,cervical vertebra abnormality,airway obstruction,X chromosome,Xp22.3

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