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Material Type: Ata de Congresso
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Pottie, Lore ; Adamo, Christin S ; Beyens, Aude ; Luetke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil ; 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
2022
Sem texto completo
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