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?-Reference-Cited by-同舟云学术

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?

Published:2007-06-01 Issue:11 Volume:143A Page:1135-1142
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wieczorek Dagmar,Shaw-Smith Charles,Kohlhase Jürgen,Schmitt Wolfgang,Buiting Karin,Coffey Alison,Howard Eleanor,Hehr Ute,Gillessen-Kaesbach Gabriele

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

2. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA

3. Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

4. Familial Syndromic Esophageal Atresia Maps to 2p23-p24

5. Feingold syndrome: Clinical review and genetic mapping

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