A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 611-614

  Gutiérrez Amavizca, Bianca Ethel ^a,b   Brambila Tapia, Aniel Jessica Leticia ^a,b   Juárez Vázquez, Clara Ibet ^a,b   Holder Espinasse, Muriel ^c   Manouvrier Hanu, Sylvie ^c   Escande, Fabienne ^c   Barros Núñez, Patricio ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

^c LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Angel shaped phalango epiphyseal dysplasia; Angel shaped phalanx; ASPED; BDC; Brachydactyly type C; CDPM1 mutation

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 5;

ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY TYPE C; CASE REPORT; CHILD; CLINODACTYLY; GENE; GENE MUTATION; GENOTYPE; HALLUX VALGUS; HUMAN; HYPOPLASIA; MALE; MALOCCLUSION; METATARSAL HYPOPLASIA; MOUTH EXAMINATION; PANORAMIC RADIOGRAPHY; PHENOTYPE; PHYSICAL EXAMINATION; SCHOOL CHILD;

BONE DISEASES, DEVELOPMENTAL; BRACHYDACTYLY; CHILD; EPIPHYSES; FINGERS; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GROWTH DIFFERENTIATION FACTOR 5; HETEROZYGOTE; HUMANS; MALE; SEQUENCE DELETION;

EID: 84867141355     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.004     Document Type: Article

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