Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant robinow syndrome

Clinical Genetics

Volumn 77, Issue 4, 2010, Pages 404-407

  Mazzeu, J F ^a,b,c   Vianna Morgante, A M ^a   Krepischi, A C V ^a,d   Oudakker, A ^e   Rosenberg, C ^a   Szuhai, K ^f   McGill, J ^g   MacCraughan, J ^h   van Bokhoven, H ⁱ   Brunner, H G ⁱ  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Robinow Syndrome Foundation   (United States)

^c UNIVERSITY OF BRASILIA   (Brazil)

^d A C CAMARGO CANCER CENTER   (Brazil)

^e RADBOUD UNIVERSITY   (Netherlands)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; FACE DYSMORPHIA; FEMALE; GENE MAPPING; GENETIC SCREENING; GENITAL MALFORMATION; HUMAN; INFANT; LETTER; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; ROBINOW SYNDROME; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENES, DOMINANT; HUMANS; INFANT; MALE; SYNDROME;

EID: 77951738122     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01355.x     Document Type: Letter

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