- A case of fetal skelectal anomaly of Campomelic syndrome
-
Kim SK, Kim HC, Shin SJ, Lee MW, Lee YM, Cho JH, Choi YJ, Kwon KW
- KMID: 2261848
- Korean J Obstet Gynecol.
- 2000 Feb;43(2):311-314.
Campomelic syndrome is a very rare skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Campomelic Dysplasia without Sex Reversal
-
Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA
- KMID: 1777990
- J Korean Med Sci.
- 2011 Jan;26(1):143-145.
- doi: 10.3346/jkms.2011.26.1.143
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother... -
- CITED
-
- Close
- SHARE
-
- Close
- A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene
-
Ko JM, Hah JH, Kim SW, Cho TJ, Kim GH, Yoo HW
- KMID: 1428900
- J Genet Med.
- 2012 Dec;9(2):89-92.
- doi: 10.5734/JGM.2012.9.2.89
Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are... -
- CITED
-
- Close
- SHARE
-
- Close
