Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

American Journal of Medical Genetics

Volumn 128 A, Issue 1, 2004, Pages 1-5

  Kantaputra, Piranit Nik ^a  

^a CHIANG MAI UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARM MALFORMATION; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CHILD; FAMILIAL DISEASE; FEMALE; FIBULA; FOLLOW UP; FOOT RADIOGRAPHY; HAND RADIOGRAPHY; HUMAN; LEG MALFORMATION; LIMB MALFORMATION; MALE; MESOMELIC DYSPLASIA KANTAPUTRA TYPE; NOTE; PEDIGREE; PRIORITY JOURNAL; RADIUS; SYNDROME DELINEATION; SYNOSTOSIS; ULNA;

EID: 3042724701     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20642     Document Type: Note

References (3)

1. Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. 1998. The gene for mesomelic dysplasia, Kantaputra type is mapped to chromosome 2q24-q32. J Hum Genet 43:32-36.
2. Kantaputra PN, Gorlin RJ, Langer LO. 1992. Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new type autosomal dominant bone disorder. Am J Med Genet 44:730-737.
3. Shears DJ, Offiah A, Rutland P, Bither-Glndzing M, Christine H. 2003. Kantaputra mesomelic dysplasia: A second reported family. Am J Med Genet (in press).