Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore Pottie; Christin S Adamo; Aude Beyens; Steffen Luetke; Piyanoot Tapaneeyaphan; Adelbert De Clercq; Phil 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

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Conference proceeding

Peer reviewed

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Luetke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, …

2022

Abstract

Biology and Life Sciences

Medicine and Health Sciences

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Title: Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Creators - without role: Lore Pottie
Christin S Adamo
Aude Beyens
Steffen Luetke
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Phil 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
Identifiers: 9922602908331
Academic Unit: King Khalid University; King Faisal University; King Saud University; Alfaisal University
Language: English
Resource Type: Conference proceeding