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Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21‐22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
Authors:Paula Iughetti  Luis Garcia Alonso  William Wilcox  Nivaldo Alonso  Maria Rita Passos‐Bueno
Affiliation:1. Departamento de Biologia, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil;2. Departamento de Morfologia, Universidade Federal de São Paulo‐Escola Paulista de Medicina, São Paulo, Brazil;3. Ahmanson Department of Pediatrics, Steven Spielberg Pediatrics Research Center, Cedars‐Sinai Burns and Allen Research Institute and Department of Pediatrics, UCLA School of Medicine, Los Angeles, California;4. Departamento de Cirurgia Plástica, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil
Abstract:
Keywords:craniometaphyseal dysplasia  craniodiaphyseal dysplasia  hyperostosis  sclerosis  spondylocostal dysostosis  linkage analysis  genetic heterogeneity
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