[Genetic diagnosis of growth disorders].
The capability of examining genetic material with DNA probes and restriction endonucleases has opened up a new approach to clinical problems. Genetic disorders involving growth hormone can now be studied because the growth hormone gene (hGH-N) can be examined directly. Several distinct Mendelian disorders are associated with hGH deficiency. Some are caused by deletion of the hGH-N structural gene. In other instances, linkage analysis confirm that genetic disorders with hGH deficiency may be due to undetectable alterations in the hGH gene, or establish that the genetic abnormality does not involve the GH gene as such but rather affects some other gene essential for the production or release of factors involved in the regulation of growth hormone action.
Goossens
M
M
Laboratoire de Génétique Moléculaire, INSERM U.91 Hôpital Henri Mondor, Créteil.
D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics; D006801:Humans
D013006:Growth Hormone
Le diagnostic génétique des retards de croissance.