Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Author:

Aldahmesh Mohamed A.,Abu-Safieh Leen,Khan Arif O.,Al-Hassnan Zuhair N.,Shaheen Ranad,Rajab Mohammed,Monies Dorota,Meyer Brian F.,Alkuraya Fowzan S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Novel PRG4 mutations underlie CACP in Saudi families;Alazami;Hum Mutat,2006

2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome;Alazami;Am J Hum Genet,2008

3. Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree;Alstrom;Acta Psychiatr Neurol Scand Suppl,1959

4. Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population;Fang;Ann Genet,2002

5. Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community;Frishberg;Genet Med,2007

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