Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. [electronic resource]
- Journal of medical genetics Jun 2001
- 369-73 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.38.6.369 doi
Abnormalities, Multiple--genetics Aggrecans Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 12 Consanguinity Craniofacial Abnormalities--genetics Extracellular Matrix Proteins Facies Family Health Female Genes, Recessive Humans Lectins, C-Type Male Osteochondrodysplasias--diagnostic imaging Pedigree Polymorphism, Single Nucleotide Proteoglycans--genetics Radiography Syndrome