Associated Papers
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
Peixoto de Barcelos I et al.
Brain Sciences, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Aldahmesh MA et al.
Human Molecular Genetics, 2014
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