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    Article

    Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A

    Bardet–Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, l...

    Masoumeh Heidari Feizabadi, Masoome Alerasool, Atieh Eslahi… in Biochemical Genetics (2024)

  2. Article

    Open Access

    TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

    Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exom...

    Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii… in Human Genomics (2021)

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