Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. [electronic resource]
- American journal of medical genetics. Part C, Seminars in medical genetics Aug 2012
- 205-16 p. digital
Publication Type: Journal Article
1552-4876
10.1002/ajmg.c.31332 doi
Amino Acid Substitution--genetics Body Height--genetics Child Codon--genetics Collagen Type II--chemistry Female Growth Charts Humans Male Mutation--genetics Osteochondrodysplasias--diagnostic imaging Protein Structure, Secondary RNA Splicing--genetics Radiography Young Adult