CrossRef Text and Data Mining
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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
Ha Na Lee, Chae Young Kim, Euiseok Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai Rhan Kim, Ki-Soo Kim
Neonatal Med. 2020;27(4):197-201.   Published online November 30, 2020
DOI: https://doi.org/10.5385/nm.2020.27.4.197

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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
Neonatal Medicine. 2020;27(4):197-201   Crossref logo
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Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal
Journal of the Formosan Medical Association. 2006;105(12):1013-1016   Crossref logo
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Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia
Pediatrics International. 1996;38(4):405-411   Crossref logo
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Acampomelic campomelic dysplasia in genetic male without sex reversal
Journal of Perinatology. 2011;32(1):75-77   Crossref logo
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Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case
Pathology. 1985;17(3):526-529   Crossref logo
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A novel mutation (296 del G) of the SOX9 gene in a patient with campomelic syndrome and sex reversal
Clinical Genetics. 2000;58(3):224-227   Crossref logo
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Sex-Reversed Acampomelic Campomelic Dysplasia With a Homozygous Deletion Mutation in SOX9 Gene
Urology. 2012;79(4):908-911   Crossref logo
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A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma
Journal of Pediatric Surgery. 2009;44(2):451-454   Crossref logo
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The role of SOX9 in autosomal sex reversal and campomelic dysplasia
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences. 1995;350(1333):271-278   Crossref logo
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p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia
Journal of Obstetrics and Gynaecology Research. 2013;39(5):1085-1091   Crossref logo
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