D. Lacombe, CLINICAL DYSMORPHOLOGY BEYOND DEVELOPMENTAL GENETICS - RECENT ADVANCES IN SOME HUMAN DEVELOPMENTAL GENES, Annales de genetique, 38(3), 1995, pp. 137-144
Dysmorphology is involved in abnormal development, genetic causes and
embryological development. The clinical studies of dysmorphic syndrome
s must lead to the identification and analysis of developmental genes
involved in normal and abnormal morphogenesis. The identification of d
ifferent genes fi om various gene families involved in dysmorphogenesi
s has recently emerged. The authors review the recent advances in some
human developmental gene families (PAX, FGFR, BMP genes). These genes
often act as patterning genes and as possible oncogenes; they are of
interest for developmental biologists and for medical geneticists.