Results 141 to 150 of about 5,906 (226)

Estudos com genes candidatos para cutis laxa autossomica recessiva tipo II

, 2007
Daniel Zanetti Scherre
openalex   +1 more source

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C. [PDF]

Am J Med Genet A, 2022
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C.   +8 more
europepmc   +1 more source

Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B [PDF]

, 2019
Vasanthan Tanigasalam, Sushil Gupta
openalex   +1 more source

Cutaneous and mucosal manifestations associated with celiac disease [PDF]

, 2018
Beteta Gorriti, Valia Patricia, Dios Velázquez, Álvaro de, Gómez de Castro, Celia, Palacios García, Laura, Rodrigo Sáez, Luis Ricardo, Santos-Juanes Jiménez, Jorge, Álvarez, Nuria   +6 more
core   +2 more sources

Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa

, 2023
Jayakrishnan Radhakrishnan, Jineesh Valakkada, Anoop Ayyappan, Pavan Kumar Bellala   +3 more
openalex   +2 more sources

The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease. [PDF]

Cureus, 2021
Dairi AS, Shihata M, Bogis AA, Alrefai M, Aluthman U, Jamjoom A.   +5 more
europepmc   +1 more source

Ultrastructural Demonstration of a Relationship between Acquired Cutis Laxa and Monoclonal Gammopathy

, 2010
L. Machet, A. Maruani, Brigitte Arbeille, M.-C. Machet, Christelle Barbet, B. Laure, Lucía Martín   +6 more
openalex   +2 more sources

Coexistence of Neonatal Bartter Syndrome and Congenital Cutis Laxa, in which a new mutation in SLC12A1 was identified

, 2023
Fatih İşleyen, Dilek Ulubaş Işık, Sumru Kavurt, Ruslan Bayramov, Ahmet Yağmur Baş, Nihal Demirel   +5 more
openalex   +2 more sources

Granulomatous slack skin. Report of three patients with an updated review of the literature [PDF]

, 1998
Dongen, J.J.M. (Jacques) van, Haselen, C.W. (Christian) van, Hees, C.L.M. (Colette) van, Putte, S.J.C. (S. J C) van der, Toonstra, J. (Johan), Vloten, W.A. (Willem) van   +5 more
core   +3 more sources

Genodermatoses [PDF]

, 2013
Uitto, Jouni
core   +2 more sources