Results 151 to 160 of about 5,571 (225)

Cutis Laxa Type 2E Report of a New Case Highlighting Hypotonia as a Major Feature [PDF]

Cutis laxa syndrome type 2E (CL2E) is a very rare disorder caused by pathogenic variants in the latent transforming binding growth factor β1 (LTBP1) gene.
Alkan, Serpil, Beyens, Aude, Callewaert, Bert, De Rycke, Riet, Fouquet, Claire, Harvengt, Julie, Pottie, Lore   +6 more
core  

Ritidoplastia em paciente de 11 anos como tratamento auxiliar da elastólise pós-inflamatória (cutis laxa) - desafios no tratamento

, 2013
Wellerson Marcos Mattioli, Fausto Viterbo, Emiliano Sá Fortes de Araújo, Priscilla Rocha Pinho   +3 more
openalex   +1 more source

Molecular genetic and clinical review of Ehlers–Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting [PDF]

, 2009
Hamish Laing, Iain Whitaker
core   +1 more source

Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4. [PDF]

Front Genet, 2021
Alanazi YF, Lockhart-Cairns MP, Cain SA, Jowitt TA, Weiss AS, Baldock C.   +5 more
europepmc   +1 more source

Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms

, 2015
Insa Bultmann-Mellin, Anne Conradi, Alexandra C. Maul, Katharina Dinger, Frank Wempe, Alexander P. Wohl, Thomas Imhof, F. Thomas Wunderlich, Alexander C. Bunck, Tomoyuki Nakamura, Katri Koli, Wilhelm Bloch, Alexander Ghanem, Andrea Heinz, Harald von Melchner, Gerhard Sengle, Anja Sterner‐Kock   +16 more
openalex   +1 more source

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2. [PDF]

Mol Genet Genomics
Shangguan S, Zhang X, Ge Y, Han Y, Xiao L, Zhang Y, Xie H, Chen X, Wang X.   +8 more
europepmc   +1 more source

Antwort auf: "Gibt es klare Präferenzen in der Therapie der Hyperthyreose zwischen chemischer Blockade der Hormonsynthese und der Behandlung mit Radiojod?" [PDF]

, 1980
Scriba, Peter Christian
core   +1 more source

Acute respiratory failure due to cutis laxa pulmonary emphysema treated with high-flow nasal cannula [PDF]

, 2022
Banfi, Paolo, Díaz de Terán López, Teresa, Ferraioli, Gianluca, González Martínez, Mónica, Nicolilni, Antonello, Perazzo, Alessandro, Perazzo, Tommaso   +6 more
core   +1 more source

Biomechanical Properties of the Skin in Cutis Laxa [PDF]

Journal of Investigative Dermatology, 2014
Frank C. Sciurba, Beth A. Kozel, Juliann McConnell, Ryan L. Minster, Joshua R. Danback, Kara L. Levine, Zsolt Urban, Meghan K. Mac Neal, Chi-Ting Su, Suneeta Madan-Khetarpal, Robert C. Wilson   +10 more
openaire   +3 more sources

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. [PDF]

Mol Genet Genomic Med, 2021
Cinquina V, Ciaccio C, Venturini M, Masson R, Ritelli M, Colombi M.   +5 more
europepmc   +1 more source