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 [6]

Pogue, R; Ehtesham, N; Cohn D.H.; Repetto G.M.; Carrero-Valenzuela, R; Pintos De Pons S.; Bazan De Casella C.; Martinez-Frias M.-L.; Heuertz, S; Corinier-Daire V.

Keywords: argentina, proteins, growth, chile, dna, gene, haplotypes, single, family, mutation, heterozygosity, humans, phenotype, human, male, disorders, newborn, dysplasia, health, multiple, female, pedigree, spain, analysis, dwarfism, retardation, smith, malformation, kyphoscoliosis, letter, nucleotide, thorax, exon, priority, Short, journal, syndrome, case, Abnormalities,, report, mental, Polymorphism,, guam, chondrodysplasia, Mutational, microcephaly, brachydactyly, Dyggve, melchior, clausen, mccort, dymeclin, limbed, Osteochondrodysplasias

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Título de la Revista: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volumen: 138
Número: 1
Editorial: WILEY-BLACKWELL
Fecha de publicación: 2005
Página de inicio: 75
Página final: 78
URL: http://www.scopus.com/inward/record.url?eid=2-s2.0-24344452848&partnerID=q2rCbXpz