Article
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
American journal of medical genetics. Part A - 15 May 2006
Zenker Martin, Nährlich Lutz, Sticht Heinrich, Reis André, Horn Denise
Abstract excerpt
Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin A. The nature of the mutation has been considered the major determinant of the phenotype within this group that comprises the otopalatodigital syndromes (OPD1, OPD2) and Melnick-Needles syndrome besides FMD. However, to date the molecular...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Contractile Proteins
- Craniofacial Abnormalities
- Craniosynostoses
- DNA Mutational Analysis
- Family Health
- Fatal Outcome