Article
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
American journal of human genetics - 3 Jun 2021
Pottie Lore, Adamo Christin S, Beyens Aude, Lütke Steffen, Tapaneeyaphan Piyanoot, De Clercq Adelbert, Salmon Phil L, De Rycke Riet, Gezdirici Alper, Gulec Elif Yilmaz, Khan Naz, Urquhart Jill E, Newman William G, Metcalfe Kay, Efthymiou Stephanie, Maroofian Reza, Anwar Najwa, Maqbool Shazia, Rahman Fatima, Altweijri Ikhlass, Alsaleh Monerah, Abdullah Sawsan Mohamed, Al-Owain Mohammad, Hashem Mais, Houlden Henry, Alkuraya Fowzan S, Sips Patrick, Sengle Gerhard, Callewaert Bert
Abstract excerpt
Latent transforming growth factor β (TGFβ)-binding proteins (LTBPs) are microfibril-associated proteins essential for anchoring TGFβ in the extracellular matrix (ECM) as well as for correct assembly of ECM components. Variants in LTBP2, LTBP3, and LTBP4 have been identified in several autosomal recessive Mendelian disorders with skeletal abnormalities with or without impaired development of elastin-rich tissues....
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