Treacher Collins syndrome: Etiology, pathogenesis and prevention

European Journal of Human Genetics

Volumn 17, Issue 3, 2009, Pages 275-283

  Trainor, Paul A ^a,b   Dixon, Jill ^c   Dixon, Michael J ^c,d  

^a STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOPROTEIN; PROTEIN P53; PROTEIN TCOF1; UNCLASSIFIED DRUG;

ALGORITHM; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; BONE RADIOGRAPHY; CELL LOSS; CLINICAL EXAMINATION; CLINICAL FEATURE; CRANIOFACIAL SURGERY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ECHOGRAPHY; EMBRYO DEVELOPMENT; EMERGENCY SURGERY; ESTHETIC SURGERY; GENE FUNCTION; GENE LOSS; GENE MAPPING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INCIDENCE; LIVE BIRTH; MANDIBLE HYPOPLASIA; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST CELL; NEURAL STEM CELL; NEUROEPITHELIUM; NONHUMAN; PATHOGENESIS; PATIENT ASSESSMENT; PENETRANCE; PLASTIC SURGERY; POSTNATAL DEVELOPMENT; POSTOPERATIVE CARE; PRENATAL DIAGNOSIS; PREOPERATIVE CARE; PRIORITY JOURNAL; RIBOSOME;

FACIES; FEMALE; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION;

ANIMALIA;

EID: 60749102064     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.221     Document Type: Article

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