Proven germline mosaicism in a father of two children with CHARGE syndrome

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 473-479

  Pauli, Silke ^a   Pieper, L ^a   Haberle J ^b,d   Grzmil, P ^a,c   Burfeind, P ^a   Steckel, M ^a   Lenz, U ^a   Michelmann, H W ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c JAGIELLONIAN UNIVERSITY   (Poland)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

CHARGE syndrome; CHD7; Familial case; Gonadal mosaicism; Single spermatozoa PCR

Indexed keywords

DNA BINDING PROTEIN; GENOMIC DNA; PROTEIN CHD7; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CLEFT LIP PALATE; CLINICAL FEATURE; COLOBOMA; DEVELOPMENTAL DISORDER; EAR MALFORMATION; EXON; FACIAL NERVE PARALYSIS; FAMILY STUDY; FATHER; FEEDING DISORDER; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MICROPENIS; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE; TRACHEOMALACIA;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DNA-BINDING PROTEINS; EXONS; FEMALE; GERM-LINE MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MOSAICISM; SIBLINGS; SYNDROME;

EID: 65449121473     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01151.x     Document Type: Article

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