Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

Journal of Medical Genetics

Volumn 43, Issue 3, 2006, Pages 280-284

  Johnson, Diana ^a,d   Morrison, N ^a   Grant, L ^b   Turner, T ^b   Fantes, J ^c   Connor, J M ^a   Murday, V ^a  

^a Ferguson Smith Centre for Clinical Genetics   (United Kingdom)

^b QUEEN MOTHER S HOSPITAL   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHD7 GENE; CHROMOSOME 8; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; ECHOCARDIOGRAPHY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; KARYOTYPING; MONOZYGOTIC TWINS; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; STOMACH FUNDOPLICATION; SYNDROME CHARGE; VISUAL IMPAIRMENT;

EID: 33645121876     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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