Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal, Paulien A

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