Genetic analysis of patients with the Saethre-Chotzen phenotype. [electronic resource]
- American journal of medical genetics Jun 2002
- 136-43 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.10400 doi
Acrocephalosyndactylia--genetics Child, Preschool DNA--chemistry DNA Mutational Analysis Family Health Female Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Mutation, Missense Nuclear Proteins Pedigree Phenotype Protein-Tyrosine Kinases Receptor, Fibroblast Growth Factor, Type 3 Receptors, Fibroblast Growth Factor--genetics Transcription Factors--genetics Twist-Related Protein 1