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]

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 75-78

  Pogue, Robert ^a   Ehtesham, Nadia ^a   Repetto, Gabriela M ^b   Carrero Valenzuela, Roque ^c   Bazán De Casella, Cristina ^c,d   Pintos De Pons, Silvia ^c   Martínez Frías, Maria Luisa ^e   Heuertz, Solange ^f   Corinier Daire, Valerie ^f   Cohn, Daniel H ^a,g,h  

^a Steven Spielberg Pediatric Research Center   (United States)

^b UNIVERSIDAD DEL DESARROLLO   (Chile)

^c UNIVERSIDAD NACIONAL DE TUCUMÁN   (Argentina)

^d Hospital del Nino Jesus Argentina   (Argentina)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRACHYDACTYLY; CASE REPORT; CHONDRODYSPLASIA; DYGGVE MELCHIOR CLAUSEN SMITH MCCORT DYSPLASIA; DYMECLIN GENE; EXON; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; KYPHOSCOLIOSIS; LETTER; MALE; MICROCEPHALY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SHORT LIMBED DWARFISM; THORAX MALFORMATION;

ABNORMALITIES, MULTIPLE; ARGENTINA; CHILE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; GUAM; HAPLOTYPES; HUMANS; MALE; MENTAL RETARDATION; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SPAIN; SYNDROME;

EID: 24344452848     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30912     Document Type: Letter

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