A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

Clinical Dysmorphology

Volumn 17, Issue 4, 2008, Pages 249-253

  Vuorela, Pia E ^a   Penttinen, Maila T ^b   Hietala, Marja H ^a,b   Laine, Jukka O ^b   Huoponen, Kirsi A ^a   Kääriäinen, Helena A ^a,c  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

CHARGE syndrome; CHD7; Clinical variability; Familial; Nonsense mutation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHD7 GENE; CLINICAL FEATURE; FACIES; FAMILIAL DISEASE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; INFANT; MALE; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ABORTION, THERAPEUTIC; CODON, NONSENSE; DNA HELICASES; DNA-BINDING PROTEINS; EXONS; FAMILY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; SYNDROME; YOUNG ADULT;

EID: 55349085461     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328306a704     Document Type: Article

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