Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major
symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar …

The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in
association with a typical face, is an autosomal dominant disease with nearly complete …

Mowat–Wilson syndrome (MWS) is a rare mental retardation—multiple congenital
anomalies syndrome associated with typical facial dysmorphism. Patients can show a …

RESULTS Among a total of 42 unrelated patients we found mutations in the TBX5 gene in
nine patients (22%), four familial and five sporadic cases of HOS. The results of mutation …

Purpose In recent years, there has been an increasing interest in local infiltration analgesia
(LIA) as a technique to control postoperative pain. We compared this technique to the gold …

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a
common cause? Bladder exstrophy and Epstein type congenital macrothrombocytopenia …

Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast
method for the detection of mutations which has been successfully used for mutation …

Objective: Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder
with an incidence of 1: 45,000 in Europe. Mutations within the PAX3 gene are responsible …

We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome
(47, XX,+ idic (Y)(q12)), a combination which has to the best of our knowledge not been …

Abstract Background: Peutz-Jeghers syndrome (PJS), a rare hereditary disorder, is
characterized by the occurrence of gastrointestinal hamartomatous polyps associated with …