Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference5 articles.
1. High density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome;Fujii;Hum. Genet.,2007
2. Nevoid basal cell carcinoma syndrome (Gorlin syndrome);Lo Muzio;Orphanet J. Rare Dis.,2008
3. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports;Menten;J. Med. Genet.,2006
4. A girl with deletion 9q22.1-q22.32 including the PTCH1 and ROR2 genes identified by genome-wide array-CGH;Nowakowska;Am. J. Med. Genet.,2007
5. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome;Redon;Eur. J. Hum. Genet.,2006
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1. Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency;Journal of Human Genetics;2022-05-17
2. Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient;SpringerPlus;2014-08-22
3. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci;American Journal of Medical Genetics Part A;2013-10-07
4. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay;American Journal of Medical Genetics Part A;2011-12-21
5. Early diagnosis of Gorlin-Goltz syndrome: case report;Head & Face Medicine;2011-01-25
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