Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

doi:10.1002/ajmg.a.20058

Article

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

American journal of medical genetics. Part A - 15 Jun 2003

Tredano Mohammed, Griese Matthias, de Blic Jacques, Lorant Tifenn, Houdayer Claude, Schumacher Silja, Cartault François, Capron Frédérique, Boccon-Gibod Liliane, Lacaze-Masmonteil Thierry, Renolleau Sylvain, Delaisi Bertrand, Elion Jacques, Couderc Rémy, Bahuau Michel

Abstract excerpt

We have analyzed surfactant protein B (SP-B) and its encoding gene (SFTPB, MIM 178640) in 40 unrelated pediatric patients with unexplained respiratory distress (URD). There was high consanguinity (eight kindreds) and an underlying autosomal recessive trait could be inferred in most cases, with overall high sex ratio (32/17) suggesting proband's gender to impact on penetrance. The clinical/biological presentations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

Abstract excerpt

Topics

Related research