{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:26:28Z","timestamp":1791476788584,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Chongqing Science and Technology Bureau","award":["cstc2018jscx-mszdX0023"],"award-info":[{"award-number":["cstc2018jscx-mszdX0023"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Protein phosphatase 1 catalytic subunit beta (<jats:italic>PPP1CB<\/jats:italic>) is a disease\u2010causing gene of Noonan\u2010like syndrome, which acts via the RAS\/MAPK pathway. To date, only 17 patients diagnosed with <jats:italic>PPP1CB<\/jats:italic>\u2010related Noonan\u2010like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow\u2010up data is lacking. To the best of our knowledge, this is the first reported patient with complete recombinant human growth hormone (rhGH) treatment follow\u2010up data; the patient has a de novo c.146C&gt;G (p.Pro49Arg) mutation in the <jats:italic>PPP1CB<\/jats:italic> gene. The hair pattern of the patient (coarse, curly, slow growing, and fragile) combined with Noonan dysmorphic features, developmental delay, and congenital heart disease, are highly consistent with the typical features observed in Noonan syndrome\u2010like disorder with loose anagen hair 2 (NSLH2). rhGH treatment, administered for 3\u2009years and 8 months, promoted the patient's linear growth. Our findings expand the data regarding the treatment of short stature in patients with NSLH2 caused by <jats:italic>PPP1CB<\/jats:italic> mutation. Clinical manifestation, growth and development process, and rhGH therapy effect data will aid in future revision of the relevant diagnosis and treatment guidelines.<\/jats:p>","DOI":"10.1002\/ajmg.a.61638","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T07:01:36Z","timestamp":1590994896000},"page":"1967-1971","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A case report of Noonan syndrome\u2010like disorder with loose anagen hair 2 treated with recombinant human growth hormone"],"prefix":"10.1002","volume":"182","author":[{"given":"Ping","family":"Zhou","sequence":"first","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiongli","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Xinqiao Hospital, Army Medical University  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongfang","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Clinical Nutrition Children's Hospital of Chongqing Medical University  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianxiu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Yang","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Cheng","sequence":"additional","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingyu","family":"Li","sequence":"additional","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2614-1528","authenticated-orcid":false,"given":"Li","family":"Chen","sequence":"additional","affiliation":[{"name":"Growth, Development, and Mental health of Children and Adolescence Center Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Child Health and Nutrition  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorder  Chongqing China"},{"name":"China International Science and Technology Cooperation base of Child Development and Critical Disorders  Chongqing China"},{"name":"National Clinical Research Center for Child Health and Disorders (Chongqing)  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38070"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-38-48"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2017"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-011-0372-6"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40432"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.12.011"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37781"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000201106"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1731-1"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35519"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36255"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000498859"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.12.217"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/17446651.2017.1361821"},{"key":"e_1_2_10_17_1","first-page":"426","article-title":"Recommendations for the clinical use of recombinant human growth hormone in children","volume":"51","author":"Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, Society of Pediatrics, Chinese Medical Association The Editorial Board, Chinese Journal of Pediatrics","year":"2013","journal-title":"Chinese Journal of Pediatrics"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37191"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1951-7"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1720352115"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38056"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0183-x"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36404"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61638","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61638","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61638","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61638","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T09:18:22Z","timestamp":1693905502000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/ajmg.a.61638"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61638","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"2020-03-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}