Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
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ABSTRACT:
SUBMITTER: Pottie L
PROVIDER: S-EPMC8715164 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie Lore L Adamo Christin S CS Beyens Aude A Lütke Steffen S Tapaneeyaphan Piyanoot P De Clercq Adelbert A Salmon Phil L PL De Rycke Riet R Gezdirici Alper A Gulec Elif Yilmaz EY Khan Naz N Urquhart Jill E JE Newman William G WG Metcalfe Kay K Efthymiou Stephanie S Maroofian Reza R Anwar Najwa N Maqbool Shazia S Rahman Fatima F Altweijri Ikhlass I Alsaleh Monerah M Abdullah Sawsan Mohamed SM Al-Owain Mohammad M Hashem Mais M Houlden Henry H Alkuraya Fowzan S FS Sips Patrick P Sengle Gerhard G Callewaert Bert B
American journal of human genetics 20211201 12
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