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Article
Open AccessClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry.
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Article
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlap** Feingold syndrome. Mice with targeted deletions in miR17~92 also display gro...
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Article
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Neuroblastoma is the most common childhood cancer. There is a strong familial association and it was predicted over 30 years ago that there was a genetic element to the disease. Four groups now report the iden...
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Article
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core phenotype is ...
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Article
Myocardial perfusion in children with sickle cell anaemia
Background. Myocardial ischaemia is an unexpected complication with potentially serious clinical damages in patients with sickle cell anaemia (SCA). Conventional techniques, such as exercise testing and echocard...
