Pogue, Robert

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. [electronic resource] - American journal of medical genetics. Part A Sep 2005 - 75-8 p. digital

Publication Type: Letter

1552-4825

10.1002/ajmg.a.30912 doi


Abnormalities, Multiple--genetics
Argentina
Chile
DNA Mutational Analysis
Family Health
Female
Growth Disorders--pathology
Guam
Haplotypes
Humans
Intellectual Disability--pathology
Intracellular Signaling Peptides and Proteins
Male
Mutation
Osteochondrodysplasias--pathology
Pedigree
Polymorphism, Single Nucleotide
Proteins--genetics
Spain
Syndrome