Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene

Journal of the Formosan Medical Association

Volumn 105, Issue 6, 2006, Pages 518-521

  Su, Pen Hua ^a,b   Chen, Jia Yu ^b   Chen, Suh Jen ^b   Yu, Ju Shan ^a,b  

^a CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Mutation; TCOF1 gene; Treacher Collins syndrome

Indexed keywords

GENOMIC DNA; PHOSPHOPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD DEATH; CLEFT PALATE; CLINICAL FEATURE; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; DNA DETERMINATION; EXON; GENE DELETION; GENE MUTATION; HEARING LOSS; HEART FAILURE; HUMAN; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; MICROTIA; NEWBORN; POLYMERASE CHAIN REACTION; PROTEIN POLYMORPHISM; RESPIRATORY FAILURE; STOP CODON; TAIWAN;

EID: 33745598503     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60194-7     Document Type: Article

References (16)

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