Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the
gene for which was mapped to chromosome 12 two years ago. We have now identified a …

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal
dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split foot …

Atrial septal defect is one of the most common forms of congenital heart malformation. We
identified a new locus linked with atrial septal defect on chromosome 14q12 in a large family …

Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic
thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent …

A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the
United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their …

The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation
syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower …

BTHS should be considered in any men with neutropenia accompanied by any of the
characteristic features of this syndrome. Prophylaxis with G-CSF±antibiotics prevents …

Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy.
Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the …

Feingold syndrome is characterized by variable combinations of esophageal and duodenal
atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that …

Abstract Objective Barth Syndrome (BTHS) is an X‐linked multisystem disorder (OMIM
302060) usually diagnosed in infancy and characterized by cardiac problems [dilated …