Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)-Reference-Cited by-同舟云学术

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Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Published:2006-07 Issue:4 Volume:49 Page:338-345
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Schwarzbraun Thomas,Windpassinger Christian,Ofner Lisa,Vincent John B.,Cheung Joseph,Scherer Stephen W.,Wagner Klaus,Kroisel Peter M.,Petek Erwin

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference12 articles.

1. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations;Debeer;Am. J. Med. Genet.,2003

2. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy;DiMauro;Science,1981

3. Oxycephaly;Greig;Edinburgh Med. J.,1928

4. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome;Johnston;Am. J. Med. Genet.,2003

5. The human genome browser at UCSC;Kent;Genome Res.,2002

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome;Gazi Medical Journal;2024-04-01

2. Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review;Genes;2021-10-23

3. Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia;Genes, Chromosomes and Cancer;2020-11-18

4. Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1;Journal of Clinical Research in Pediatric Endocrinology;2017-12-14

5. Novel chromosomal translocation t(7; 14)(q36.3; q11.2) dn in a female child with dysmorphic features;J PEDIATR NEONATAL I;2014

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