Latest papers

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.

Congenital anomalies of the spleen from an embryological point of view.

Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review.

Antibacterial Medication Use During Pregnancy and Risk of Birth Defects: National Birth Defects Prevention Study

Distraction osteogenesis for correction of three-dimensional deformities with shortening of lower limbs by Taylor Spatial Frame.

Maternal nutrient intake and risks for transverse and longitudinal limb deficiencies: data from the National Birth Defects Prevention Study, 1997-2003.

Usefulness of three-dimensional ultrasonography in the prenatal evaluation of acromelic deviations.

The effect of thalidomide in chicken embryos.

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway.

Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Molecular Regulation of Limb Growth

Formin1 disruption confers oligodactylism and alters Bmp signaling

[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]

Novel human pathological mutations. Gene symbol: WNT7A. Disease: ulnar and fibula absence, with severe limb deficiency.

Oromandibular limb hypogenesis syndrome with no oromandibular features, or Moebius syndrome without facial palsy? A diagnostic conundrum

Tetraphocomelia with the Waardenburg syndrome and multiple malformations

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.