Human facial dysostoses

Clinical Genetics

Volumn 83, Issue 6, 2013, Pages 499-510

  Wieczorek, D ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Acrofacial dysostosis; AFD; EFTUD2; Mandibulofacial dysostosis; MFD; Miller syndrome; Nager syndrome; Treacher Collins syndrome

Indexed keywords

BLEPHAROPHIMOSIS; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; COLOBOMA; CROUZON SYNDROME; CRYPTORCHISM; DISEASE ASSOCIATION; EFTUD2 GENE; EXON; FOOT MALFORMATION; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; HYPOSPADIAS; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; MICROTIA; NAGER ACROFACIAL DYSOSTOSIS; OLIGODONTIA; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PTOSIS; RETROGNATHIA; REVIEW; RNA TRANSCRIPTION; SF3B4 GENE; THORAX DEFORMITY; X CHROMOSOME DOMINANT INHERITANCE; ZYGOMA;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; PHENOTYPE; SYNDROME;

EID: 84876812647     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12123     Document Type: Review

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