Results 81 to 90 of about 240,041 (144)

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

J Pediatr Genet, 2014
Mehar V, Yadav D, Kumar R, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ.   +9 more
europepmc   +1 more source

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. [PDF]

J Med Genet, 2004
Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM.   +6 more
europepmc   +1 more source

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]

Am J Case Rep
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B.   +4 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

The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study. [PDF]

Orphanet J Rare Dis
Böker T, Kirkhus E, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R.   +6 more
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

Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome. [PDF]

JACC Basic Transl Sci
De Rycke K, Horvat M, Caboor L, Vermassen P, De Smet G, Lobbestael S, Santana Silva M, Steyaert W, Van Impe M, Segers P, De Backer J, Sips P.   +11 more
europepmc   +1 more source

Spontaneous Left Main Coronary Artery Dissection in a Male. [PDF]

Cureus
Chopra L, Maenza J, Chang CC, Rashid SMI, Kanei Y.   +4 more
europepmc   +1 more source

Perioperative Care of a Pediatric Patient With Beals Syndrome. [PDF]

J Med Cases
Wrona A, Holladay J, Tobias JD.
europepmc   +1 more source

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in <i>MYLK</i> and <i>FBN2</i>: a case report. [PDF]

Front Genet
Cai M, Liu Y, Liao Z, Wu Y, Jiao J.
europepmc   +1 more source