Extra phenotypic features in a girl with Miller syndrome

Clinical Dysmorphology

Volumn 20, Issue 2, 2011, Pages 66-72

  Al Kaissi, Ali ^a,b   Roetzer, Katharina M ^c   Ulz, Peter ^c   Heitzer, Ellen ^c   Klaushofer, Klaus ^a   Grill, Franz ^b  

^a LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^b Orthopaedic Hospital of Speising   (Austria)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

Brachydactyly; cone shaped epiphyses; DHODH gene; Miller syndrome; triangular shaped terminal phalanges

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DHODH GENE; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; LIMB DEFECT; LONG PHILTRUM; MILLER DIEKER SYNDROME; PHENOTYPE; PHYSICAL EXAMINATION; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; SEQUENCE ANALYSIS; SPINE RADIOGRAPHY; STRABISMUS; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FEMALE; FINGER PHALANGES; HETEROZYGOTE; HUMANS; LEG BONES; LIMB DEFORMITIES, CONGENITAL; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHISM; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SPINE; TOE PHALANGES;

EID: 79953056586     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283416701     Document Type: Article

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