Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother?

American Journal of Medical Genetics, Part A

Volumn 143, Issue 11, 2007, Pages 1135-1142

  Wieczorek, Dagmar ^a   Shaw Smith, Charles ^b   Kohlhase, Jürgen ^c   Schmitt, Wolfgang ^d   Buiting, Karin ^a   Coffey, Alison ^e   Howard, Eleanor ^e   Hehr, Ute ^f   Gillessen Kaesbach, Gabriele ^a,g  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c Praxis fur Humangenetik   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^g UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Aplastic hypoplastic zygomatic arches; ASD; Cup shaped ears; Esophageal atresia; Mental retardation; Microcephaly; VSD

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHD7 GENE; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; EAR MALFORMATION; ESOPHAGUS ATRESIA; FEINGOLD SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE INACTIVATION; GENE MUTATION; GOLDENHAR SYNDROME; HUMAN; HYPOPLASIA; HYPOPLASIA OF ZYGOMATIC COMPLEX; MALE; MANDIBULOFACIAL DYSOSTOSIS; MENTAL DEFICIENCY; MICROCEPHALY; MULTIPLE CONGENITAL ANOMALY; MYCN GENE; PRIORITY JOURNAL; SYNDROME CHARGE; TCOF1 GENE;

ABNORMALITIES, MULTIPLE; CHILD; EAR, EXTERNAL; ESOPHAGEAL ATRESIA; FEMALE; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; MOTHERS; PEDIGREE; PHENOTYPE; SIBLINGS; SKULL; SPINE; SYNDROME; ZYGOMA;

EID: 34249882183     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31752     Document Type: Article

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