Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.
Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. Current information available about testing options and the Ashkenazi Jewish Screening panel, including the addition of screening for MLIV, is presented. The importance of genetic screening and counseling is emphasized.
Gordon
Roxann M
RM
Nurse-Midwifery Program, Georgetown School of Nursing and Health Studies, Georgetown University, Washington, DC 20057, USA.
Marchese
Teresa
T
D018703:Founder Effect; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics*; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics*; D009519:New York City; D014481:United States