Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Am J Hum Genet
.
2021 Dec 2;108(12):2386-2388.
doi: 10.1016/j.ajhg.2021.11.009.
Authors
Lore Pottie
,
Christin S Adamo
,
Aude Beyens
,
Steffen Lütke
,
Piyanoot Tapaneeyaphan
,
Adelbert De Clercq
,
Phil L Salmon
,
Riet De Rycke
,
Alper Gezdirici
,
Elif Yilmaz Gulec
,
Naz Khan
,
Jill E Urquhart
,
William G Newman
,
Kay Metcalfe
,
Stephanie Efthymiou
,
Reza Maroofian
,
Najwa Anwar
,
Shazia Maqbool
,
Fatima Rahman
,
Ikhlass Altweijri
,
Monerah Alsaleh
,
Sawsan Mohamed Abdullah
,
Mohammad Al-Owain
,
Mais Hashem
,
Henry Houlden
,
Fowzan S Alkuraya
,
Patrick Sips
,
Gerhard Sengle
,
Bert Callewaert
PMID:
34861177
PMCID:
PMC8715164
DOI:
10.1016/j.ajhg.2021.11.009
No abstract available
Publication types
Published Erratum