Hyoung-Young Kim Chong Hyun Yoon Gu-Hwan Kim Han-Wook Yoo Byong Sop Lee Ki Soo Kim Ellen Ai-Rhan Kim
10.3346/jkms.2011.26.1.143
J Korean Med Sci
2011 Jan;26(1):143-5.
campomelic dysplasia sox9 gene
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21218044/
Campomelic Dysplasia / diagnosis SOX9 Transcription Factor / genetics
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
PMC3012840
21218044
A case of campomelic dysplasia without sex reversal
2011