Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

Clinical Dysmorphology

Volumn 14, Issue 2, 2005, Pages 67-71

  Thiel, Christian T ^a,b   Rosanowski, Frank ^b   Kohlhase, Jürgen ^c   Reis, André ^a   Rauch, Anita ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Goldenhar syndrome; Microtia with meatal atresia; OAVS spectrum; TCOF1

Indexed keywords

ADOLESCENT; ARTICLE; AUDITORY CANAL; AUDITORY MEATUS ATRESIA; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; GENE; GENE FUNCTION; GENE MUTATION; GENE TCOF1; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GOLDENHAR SYNDROME; HEARING LOSS; HUMAN; INFANT; KARYOTYPE; MALE; MICROTIA; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

DNA; DNA MUTATIONAL ANALYSIS; EAR, EXTERNAL; FACE; GOLDENHAR SYNDROME; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYMORPHISM, GENETIC;

EID: 16444369898     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200504000-00003     Document Type: Article

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