Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Frontometaphyseal dysplasia

National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Transforming growth factor-β (TGF-β)-activated kinase 1 (TAK1) is a member of the mitogen-activated protein kinase kinase kinase… Expand
  • figure 1
  • table 1
  • figure 2
  • table 2
  • table 2
2016
2016
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
Highly Cited
2004
Highly Cited
2004
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital… Expand
Highly Cited
2000
Highly Cited
2000
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… Expand
Highly Cited
1995
Highly Cited
1995
Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is… Expand
1991
1991
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread… Expand
Review
1980
Review
1980
Fewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no… Expand
Review
1980
Review
1980
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and… Expand
1979
1979
A 12‐year‐old boy with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. He also had congenital… Expand
1976
1976
A 10-year-old boy with mixed bilateral hearing loss and unusual facies was found to have frontometaphyseal dysplasia. He has… Expand