A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

Indian Journal of Human Genetics

Volumn 17, Issue 2, 2011, Pages 97-99

  Elalaoui, Siham ^a   Mariam, Tajir ^a   Ilham, Ratbi ^a,b   Yassamine, Doubaj ^a   Abdelaziz, Sefiani ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b MOHAMMED V UNIVERSITY   (Morocco)

Author keywords

Dyggve Melchior Clausen syndrome; Dymeclin gene; recurrent mutation

Indexed keywords

ABNORMAL BODY BUILD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DNA SEQUENCE; DYGGVE MELCHIOR CLAUSEN SYNDROME; DYMECLIN GENE; FACE MALFORMATION; GENE; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HYPERACTIVITY; HYPOPLASIA; MALE; MOLECULAR GENETICS; ODONTOID HYPOPLASIA; PIGEON THORAX; PRESCHOOL CHILD; SCOLIOSIS; SHORT STATURE; SLEEP DISORDER; VALGUS KNEE;

EID: 80155149580     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.86197     Document Type: Article

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