Zobrazeno 1 - 10
of 346
pro vyhledávání: '"restrictive dermopathy"'
Autor:
Wei Di Ng, MBBS, MMED (Paed), Ai Ling Koh, MB, ChB, MRCPCH, MMED (Paed), Mark Jean Aan Koh, MBBS, DIP, MRCPCH, Dip Pract Derm (UK), DipDermatopathology (ICDP-UEMS, Austria), Juin Yee Kong, MD (Jefferson, FAAP, Diplomate of American Board of Pediatrics) (Peds) (Neonatology)
Publikováno v:
JAAD Case Reports, Vol 30, Iss , Pp 41-43 (2022)
Externí odkaz:
https://doaj.org/article/6037d95de41e44dba8a9de9902a36a11
Autor:
Coppedè F
Publikováno v:
The Application of Clinical Genetics, Vol Volume 14, Pp 279-295 (2021)
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, Universit
Externí odkaz:
https://doaj.org/article/e09a001f6c0a430a89323d98b91e9efd
Autor:
Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 51-58 (2020)
Abstract Many of the genetic childhood disorders leading to death in the perinatal period follow autosomal recessive inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Often, affected children die before a genet
Externí odkaz:
https://doaj.org/article/4708b54afbec4ce89b915b2a4da3e00a
Publikováno v:
Indian Journal of Dermatology, Vol 65, Iss 6, Pp 519-521 (2020)
Restrictive dermopathy is a rare, autosomal recessive, lethal congenital skin disorder. This congenital genodermatosis could be mistaken for various other similar skin disorders. Diagnosis is a must in the context of genetic counseling for the subseq
Externí odkaz:
https://doaj.org/article/dcd359ad7eda4043bf3a1020cae0089e
Autor:
Adriana Serrano Olave, Alba Padín López, María Martín Cruz, Susana Monís Rodríguez, Isidoro Narbona Arias, Jesús S. Jiménez López
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1535 (2022)
Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is charac
Externí odkaz:
https://doaj.org/article/d3aedad40e7042ef9f21aea8d64c31be
Autor:
Toth, Julia I., Yang, Shao H., Qiao, Xin, Beigneux, Anne P., Gelb, Michael H., Moulson, Casey L., Miner, Jeffrey H., Young, Stephen G., Fong, Loren G., Havel, Richard J.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2005 Sep 01. 102(36), 12873-12878.
Externí odkaz:
https://www.jstor.org/stable/3376481
Akademický článek
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Akademický článek
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Autor:
Anisha K Janardhanan, Sarita Sasidharanpillai, Aparna S Vidya, Babu Francis, Mohandas Nair Karippoth
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 19, Iss 4, Pp 360-362 (2018)
Restrictive dermopathy is a rare entity that is fatal in the neonatal period itself. The rigidity of the skin leads to erosions, contractures, and restriction of respiratory movements. Diagnosis is often made clinically with classical features such a
Externí odkaz:
https://doaj.org/article/603138bc811949adac06c15ad8e48259
Autor:
Lacey Kruse, Karina L Vivar, Jennifer B Scott, Annette Wagner, Anthony J. Mancini, Arianna F Yanes, Duri Yun
Publikováno v:
Pediatric Dermatology. 38:1535-1540
Restrictive dermopathy (RD) is a rare and lethal laminopathy caused by mutations in LMNA or ZMPSTE24. This series reports 3 patients with RD and reviews the literature of the 113 previously reported cases, including highlights of the unique constella
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad5acdbfcef9b77f602ed965a0a6a2f
https://doi.org/10.1111/pde.14822
https://doi.org/10.1111/pde.14822