Results 71 to 80 of about 598 (144)

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]

Biochem Genet
Zhang C, Qiao F, Cheng Q, Luo C, Zhang Q, Hu P, Xu Z.   +6 more
europepmc   +1 more source

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. [PDF]

J Assist Reprod Genet, 2016
Chen L, Diao Z, Xu Z, Zhou J, Wang W, Li J, Yan G, Sun H.   +7 more
europepmc   +1 more source

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. [PDF]

Int J Tuberc Lung Dis, 2012
Paulson ML, Olivier KN, Holland SM.
europepmc   +1 more source

Congenital contractural arachnodactyly.

Journal of postgraduate medicine, 1978
N B, Kumta, S F, Irani, R R, Sekhri, D V, Punwani   +3 more
openaire   +1 more source

Congenital contractural arachnodactyly.

Indian pediatrics, 1996
M L, Kulkarni, C S, Kumar, V, Venkataramana, V G, George, M, Bhagyavathi   +4 more
openaire   +1 more source

Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia. [PDF]

Front Genet, 2023
Guo L, Qiang R, Zhang Y, Simsek-Kiper PO.   +3 more
europepmc   +1 more source

Congenital contractural arachnodactyly.

The Western journal of medicine, 1974
M S, Hale, H D, Rodman, J, Lipshin
openaire   +1 more source

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

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