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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… 
Review
2017
Review
2017
Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA in approximately 50% of… 
Highly Cited
2011
Highly Cited
2011
Review
2009
Review
2009
Erlenmeyer flask bone deformity (EFD) is a long‐standing term used to describe a specific abnormality of the distal femora. The… 
Highly Cited
2004
Highly Cited
2004
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital… 
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… 
Highly Cited
1995
Highly Cited
1995
Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is… 
Review
1980
Review
1980
Fewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no… 
1979
1979
A 12‐year‐old boy with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. He also had congenital… 
1976
1976
A 10-year-old boy with mixed bilateral hearing loss and unusual facies was found to have frontometaphyseal dysplasia. He has…