<h4>Objective</h4>To screen and analyze the genetic mutations in the <i>PPP1CB</i> gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.<h4>Methods</h4>After obtaining informed consent, we collected the patient's medical history and carried out physical and laboratory examinations for the NSLH2 proband and the family members. This evidence concerns the gene PPP1CB and Noonan syndrome.