Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-
sulfotransferase) has been reported in a single kindred so far and in association with a …

Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is
characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones …

We treated a patient with multiple congenital joint dislocations and facial dysmorphisms
consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of …

Introduction The craniocervical junction is a vital component in understanding the function of
the human central nervous system. It is the threshold for major pathways affecting both brain …

Limb formation occurs at 4–12 weeks gestation and involves many genes and gene families.
The prevalence of limb abnormalities is approximately 6/10,000 live births, with higher …

Background We report on a fetus with radiographic features of Larsen Syndrome (LS) and
unbalanced 3; 5 translocation. Recently LS was shown to be caused by mutations in FLNB …

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-
sulfotransferase) has been reported in a single kindred so far and in association with a …

ProK2, ProKR2) sont maintenant décrits dans le syndrome de Kallmann avec transmission
liée à l'X ou autosomale dominante. Deux gènes (GnRHR, GPR54) sont décrits dans la …

Introducción. El síndrome de Larsen se caracteriza por luxaciones congénitas irreductibles
de múltiples articulaciones, así como por deformidad podálica marcada. La cara de estos …

16. Amasyali, B; Aytemir, K; Kose, S; Kilic, A; Abali, G; Iyisoy, A; Kursaklioglu, H; Turan, M;
Bingol, N; Isik, E; Demirtas, E. Admission plasma leptin level strongly correlates with the …