203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease [PDF]
Mary Gable+9 more
openalex +1 more source
Scleromyxedema: A Case Report with Cutis-Laxa like Features [PDF]
Montserrat Molgó
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]
Ravel JM+8 more
europepmc +1 more source
Estudos com genes candidatos para cutis laxa autossomica recessiva tipo II
Daniel Zanetti Scherre
openalex +1 more source
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. [PDF]
Vogt G+16 more
europepmc +1 more source
Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B [PDF]
Vasanthan Tanigasalam, Sushil Gupta
openalex +1 more source
The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease. [PDF]
Dairi AS+5 more
europepmc +1 more source
Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa
Jayakrishnan Radhakrishnan+3 more
openalex +2 more sources