IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient-Reference-Cited by-同舟云学术

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IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient

Published:2012-07 Issue:4 Volume:22 Page:467-472
ISSN:1167-1122
Container-title:European Journal of Dermatology
language:
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Author:

Pietrzak Aldona,Kanitakis Jean,Staśkiewicz Grzegorz,Sobczyńska-Tomaszewska Agnieszka,Dybiec Ewa,Szumiło Justyna,Kandzierski Grzegorz,Wawrzycki Bartłomiej,Chodorowska Grażyna

Publisher

John Libbey Eurotext

Subject

Dermatology

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies;Journal of Dermatological Science;2023-12

2. Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage;Bone;2023-12

3. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2;Revista Paulista de Pediatria;2023

4. Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review;Orphanet Journal of Rare Diseases;2022-02-16

5. Site-1 and site-2 proteases: A team of two in regulated proteolysis;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2022-01

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