Bayoumi, R

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