Dyggve-Melchior-Clausen syndrome: Presentation of a case with a mutation of possible Spanish origin;Síndrome de Dyggve-Melchior-Clausen: Presentación de un caso con una mutación de posible origen Español

Medicina Clinica

Volumn 128, Issue 4, 2007, Pages 137-140

  Martínez Frías, María Luisa ^a,b   Cormier Daire, Valerie ^c   Cohn, Daniel H ^d,e   Mendioroz, Jacobo ^a   Bermejo, Eva ^a   Mansilla, Elena ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Steven Spielberg Pediatric Research Center   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Dyggve Melchior Clausen syndrome (DMC); Haplotype; Mutations; Smith McCort syndrome (SMC)

Indexed keywords

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MEDICAL EDUCATION; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 33847745820     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13098019     Document Type: Article

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