Background Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of ...

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...

Clinical Genetic Service, Department of Health, Hong Kong SAR, China Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most ...

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including ...

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander ...

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA Dr S R Lalani, Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, ...

1 Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada 2 Department of Clinical Genetics, Centre for Human ...

1 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 2 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan 3 Department of Preventive ...

A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...