Results 41 to 50 of about 2,491 (128)

Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype. [PDF]

JACC Case Rep
James L, Husain N, Langas SJ, Baker J, McMillan KN, Vricella L, Camarda J.   +6 more
europepmc   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

Ehlers-Danlos Syndrome: A Tale of Two Cases Highlighting Rare Subtypes and Diagnostic Considerations. [PDF]

Cureus
Pati K, Tripathy SR, Patnaik SS, Parida MK, Das BK.   +4 more
europepmc   +1 more source

Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report. [PDF]

Rom J Ophthalmol
Geetanjali C, Santosh K, Kumar SV, Manendra S, Ayusha R, Sonam V, Maariyam BM.   +6 more
europepmc   +1 more source

Characterization of a New PRKG1 Mutation Associated With Thoracic Aortic Aneurysm and Dissection. [PDF]

JACC Basic Transl Sci
Casteel DE.
europepmc   +1 more source

FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations. [PDF]

Mol Genet Metab Rep
Huang Y, Fang X, Ma L, Zhang J, Wang C, Gao T, Peng D.   +6 more
europepmc   +1 more source

Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges. [PDF]

Cureus
Laranjeira J, Katerenchuk V, Duarte J, Lérias-Cambeiro M, Lança F.   +4 more
europepmc   +1 more source

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation. [PDF]

Int Dent J
Kantaputra PN, Apivatthakakul A, Kaewgahya M, Tongsima S, Ngamphiw C, Sastraruji T, Sukantamala P, Carlson BM, Kawasaki K, Ketudat Cairns JR, Sonsuwan N, Ohazama A.   +11 more
europepmc   +1 more source

Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome. [PDF]

Front Pediatr
Qiao X, Chen Y, Su D, Shang L, Pang Y.
europepmc   +1 more source

Aortic Aneurysm Associated with Arachnodactyly [PDF]

BMJ, 1951
openaire   +2 more sources