Results 131 to 140 of about 240,041 (144)

Congenital contractural arachnodactyly Report of four additional families and review of literature

Clinical Genetics, 1985
David Weaver
exaly  

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics, Part A, 2007
Shiro Ikegawa
exaly  

Congenital contractural arachnodactyly in two double second cousins: possible homozygosity

Clinical Genetics, 1993
T Bistritzer, E Lahat
exaly  

[Arachnodactyly syndrome with congenital contractures].

Ceskoslovenska pediatrie, 1981
J, Zizka, V, Jüttnerová, Z, Kuralová, P, Balicek, J, Lichý   +4 more
openaire   +1 more source

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

Human Mutation, 2009
Paul Coucke, Julie de Backer, Bert Callewaert   +2 more
exaly  

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly

Clinical Dysmorphology, 2018
Abdullah I, Gürler, Zafer, Yüksel, Kadri, Karaer   +2 more
openaire   +2 more sources

Marfan-like features and congenital contractural arachnodactyly

The Journal of Pediatrics, 1982
openaire   +1 more source

Kyphoscoliosis in congenital contractural arachnodactyly. A case report.

Spine, 1988
J, Shikata, T, Yamamuro, Y, Mikawa, H, Iida, N, Nishimura   +4 more
openaire   +1 more source

The metacarpophalangeal profile in a family with congenital contractural arachnodactyly.

Genetic counseling (Geneva, Switzerland), 2000
A, Guala, C, Danesino, D M, Milewicz, E A, Putnam, P, Franceschini   +4 more
openaire   +1 more source

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly [Case study]

International Journal of Tuberculosis and Lung Disease, 2012
exaly