article_metadata: Hyoung-Young Kim Chong Hyun Yoon Gu-Hwan Kim Han-Wook Yoo Byong Sop Lee Ki Soo Kim Ellen Ai-Rhan Kim
article_metadata: 10.3346/jkms.2011.26.1.143
article_metadata: J Korean Med Sci
article_metadata: 2011 Jan;26(1):143-5.
article_metadata: campomelic dysplasia sox9 gene
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21218044/
article_metadata: Campomelic Dysplasia / diagnosis SOX9 Transcription Factor / genetics
article_metadata: Campomelic Dysplasia / diagnosis SOX9 Transcription Factor / genetics Case Reports Campomelic Dysplasia / diagnostic imaging Campomelic Dysplasia / genetics Disorders of Sex Development / genetics Frameshift Mutation Humans Infant Male Radiography Respiratory Insufficiency / complications Sequence Analysis, DNA SOX9 Transcription Factor
article_metadata: PMC3012840
article_metadata: 21218044
article_metadata: A case of campomelic dysplasia without sex reversal
article_metadata: 2011