A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1986.tb00555.x/fullpdf
Reference21 articles.
1. Frontonasal dysplasia. Possible hereditary connection with other congenital defects.;Bakken;Clin. Genet.,1976
2. Prometaphase chromosome analysis as a routine diagnostic technique.;Barnes;Clin. Genet.,1986
3. Apert's syndrome (a type of acrocephalosyndactyly) observations on British series of thirty nine cases.;Blank;Ann. Hum. Genet.,1960
4. Craniofrontonasal Dysplasia;Cohen;Birth Defects: Original Article Series XV,1979
5. The constitutional fragility of chromosome 12 in a case of 46XX var(12).;Donti;Hum. Genet.,1979
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1. A Family with Craniofrontonasal Syndrome;The Cleft Palate-Craniofacial Journal;2018-02-26
2. Craniofrontonasal dysostosis: variable expression in a three-generation family;Clinical Genetics;2008-06-28
3. CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1;The American Journal of Human Genetics;2007-02
4. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature;International Journal of Pediatric Otorhinolaryngology;2000-08
5. A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22;Human Molecular Genetics;1997-10-01
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