Results 121 to 130 of about 2,309 (169)

Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent. [PDF]

Indian Dermatol Online J
Senapati D, Mendiratta V, Callewaert B, Agarwal K, Osama MA, Beyens A, Symoens S.   +6 more
europepmc   +1 more source

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. [PDF]

Orphanet J Rare Dis, 2021
Gharesouran J, Hosseinzadeh H, Ghafouri-Fard S, Jabbari Moghadam Y, Ahmadian Heris J, Jafari-Rouhi AH, Taheri M, Rezazadeh M.   +7 more
europepmc   +1 more source

Classical complement activation in light and heavy chain deposition disease with acquired cutis laxa and bronchiolitis obliterans: a case report of monoclonal gammopathy of clinical significance. [PDF]

Front Immunol
Chen Y, Fan Y, Yang S, Cui H, Ye W, Ye W, Wen Y, Zhuang J, Wang P, Ma D, Fang K, Xia P, Chen L, Li H, Li C.   +14 more
europepmc   +1 more source

Neutrophil Extracellular Traps as a Possible Pathomechanism of Generalized Acquired Cutis Laxa Associated with IgA-lamda Monoclonal Gammopathy of Undetermined Significance. [PDF]

Acta Derm Venereol, 2021
Terui H, Yamasaki K, Tamabuchi E, Tsuchiyama K, Aiba S.   +4 more
europepmc   +1 more source

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations. [PDF]

Genes (Basel), 2021
Verlee M, Beyens A, Gezdirici A, Gulec EY, Pottie L, De Feyter S, Vanhooydonck M, Tapaneeyaphan P, Symoens S, Callewaert B.   +9 more
europepmc   +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

Estágio em psiquiatria na unidade de psiquiatria de ligação e psicologia da saúde do serviço de psiquiatria e saúde mental do Centro Hospitalar Universitário do Porto [PDF]

, 2019
Sofia Maria Almeida do Amaral Campos
core  

Case Report: <i>de novo</i> in-frame deletion in <i>PLCG2</i> gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa. [PDF]

Front Immunol
Wu X, Zhang J, Shen M.
europepmc   +1 more source

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +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