{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T14:08:46Z","timestamp":1780582126958,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T00:00:00Z","timestamp":1611532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio\u2010facio\u2010cutaneous, and Neurofibromatosis\u2010Noonan syndromes. Noonan syndrome with loose anagen hair (NS\u2010LAH) is clinically characterized by prominent forehead, macrocephaly, growth hormone deficiency, sparse, loose and slow\u2010growing anagen hair, hyperpigmented skin with eczema or ichthyosis, mild psychomotor delays, hypernasal voices, and attention deficit hyperactivity disorder. Variants in <jats:italic>SHOC2<\/jats:italic> are responsible for the majority of the cases. Gripp et al. identified four unrelated individuals with similar phenotype to NS\u2010LAH with pathogenic variants in <jats:italic>PPP1CB<\/jats:italic>. In this study, we present one family and one patient with NS\u2010LAH and variants in <jats:italic>PPP1CB<\/jats:italic>. The first patient belongs to a family with a likely pathogenic variant, c.545T&gt;A (p.Met182Lys), the first family published so far with a variant in this gene. The second patient harbors a <jats:italic>de novo<\/jats:italic> pathogenic variant, c.146C&gt;G (p.Pro49Arg). This study presents two additional patients with this rare syndrome in order to increase the clinical characterization of the syndrome and provide more evidence of the pathogenicity of the c.545T&gt;A (p.Met182Lys) variant in <jats:italic>PPP1CB<\/jats:italic>, a gene recently associated with NS\u2010LAH.<\/jats:p>","DOI":"10.1002\/ajmg.a.62089","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T17:56:14Z","timestamp":1611597374000},"page":"1256-1260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Noonan syndrome with loose anagen hair with variants in the <scp><i>PPP1CB<\/i><\/scp> gene: First familial case reported"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6411-1955","authenticated-orcid":false,"given":"Victoria","family":"Huckstadt","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2031-9305","authenticated-orcid":false,"given":"Josefina","family":"Chinton","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular Servicio de Gen\u00e9tica, Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abel","family":"Gomez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular Servicio de Gen\u00e9tica, Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Gabriela","family":"Obregon","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Pablo","family":"Gravina","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular Servicio de Gen\u00e9tica, Hospital de Pediatr\u00eda Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38070"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2020.04.008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.425"},{"key":"e_1_2_7_5_1","first-page":"1","article-title":"A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair","volume":"9999","author":"Gripp K. W.","year":"2016","journal-title":"American Journal of Medical Genetics\u2010Part A"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"issue":"2","key":"e_1_2_7_7_1","first-page":"126","article-title":"Growth references for weight and height for Argentinean girls and boys from birth to maturity: Incorporation of data from the World Health Organization from birth to 2\u2009years and calculation of new centiles and LMS values","volume":"107","author":"Lejarraga H.","year":"2009","journal-title":"Archivos Argentinos de Pediatr\u00eda"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-018-1157-6"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1731-1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1542\/peds.41.1.106","article-title":"Head circumference from birth to eighteen years: Practical composite international and interracial graphs","volume":"41","author":"Nellhaus G.","year":"1968","journal-title":"Pediatrics"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.03.027"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2013.10.004"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","unstructured":"ZambranoRM MarbleM ChalewSA Lilje C VargasA LacassieY. (2016).Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.American Journal of Medical Genetics\u2010Part A 9999 1\u20133.https:\/\/doi.org\/10.1002\/ajmg.a.38056","DOI":"10.1002\/ajmg.a.38056"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62089","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62089","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:41:39Z","timestamp":1693215699000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,25]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1002\/ajmg.a.62089"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62089","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,25]]},"assertion":[{"value":"2020-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}