Results 121 to 130 of about 3,806 (220)

Beyond the Aorta: Incidental Atrial Septal Defect in a Patient With Marfan Syndrome and Severe Aortic Dilation. [PDF]

Cureus
Medina Santos FJ, Pérez Figueroa JE, Bonilla Figueroa RA, Acevedo Gómez KJ, Garro Almendaro AK, Cruz Villalobos RA, García Rodríguez JF.   +6 more
europepmc   +1 more source

De novo variants in ATP2B1 lead to neurodevelopmental delay. [PDF]

Am J Hum Genet
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Jamra RA, Oppermann H.   +35 more
europepmc   +1 more source

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report. [PDF]

Int J Clin Pediatr Dent
Valdiviezo JP, Hidalgo AC, Tates MR, Ron BV.   +3 more
europepmc   +1 more source

Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome. [PDF]

Cureus
Cohen PR.
europepmc   +1 more source

Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report

Haseki Tıp Bülteni, 2011
Ali Karaman, Hasan Kahveci
doaj  

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

Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome. [PDF]

Mol Syndromol
Doğan Arı AB, Arı H, Sezer A, Ağırbaşlı D, Kurnaz E, Savaş Erdeve Ş, Kılıç E.   +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

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

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