Habib, Rabia

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. [electronic resource] - Clinical dysmorphology Apr 2013 - 47-50 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1473-5717

10.1097/MCD.0b013e32835c6c8c doi


Amino Acid Substitution
Brachydactyly--genetics
Codon, Nonsense
Genes, Dominant
Hand--diagnostic imaging
Heterozygote
Humans
Male
Nails, Malformed--genetics
Pakistan
Pedigree
Phenotype
Radiography
Receptor Tyrosine Kinase-like Orphan Receptors--genetics