Results 131 to 140 of about 3,083 (188)

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

Congenital contractural arachnodactyly [PDF]

, 2020
openaire   +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

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

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

Arachnodactyly (5q23-q31)

, 2004

core   +1 more source

Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review. [PDF]

Bone Rep
Paveta DA, Utari A, Cayami FK, Maugeri A, Märtson A, Kõks S, Pashenko A, Khmyzov S, Eekhoff EMW, Maasalu K, Micha D, Zhytnik L.   +11 more
europepmc   +1 more source

ARACHNODACTYLY (SPIDER FINGERS)

, 1945
H. GRAY
core   +1 more source

Cutis Laxa Type 1 B with Recurrent E57K Variation. [PDF]

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +1 more source

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder. [PDF]

Am J Med Genet A
Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M, Undiagnosed Diseases Network, Mak BC, Martinez-Agosto J, Heulin M, Morin G, Keren B, Schutz S, Monin P, Pujalte M, Januel L, Lesca G, Valence MB, Margot H, Levy J, Iovino E, Isidori F, Pippucci T, Montanari F, Bell L, Burton J, Torti E, Wentzensen IM, Marcadier J.   +42 more
europepmc   +1 more source

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies. [PDF]

J Family Med Prim Care
Agrawal PK, Dev S, Panda SK, Yadav SS, Srivastava A.   +4 more
europepmc   +1 more source