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39144424,39076033,38633130,38395087,38254922,38238724,36608738,35967575,35904599,35717738,35338599,34553755,34026204,32476286,31584751,30240112,30236064,29737035,28414188,28211982,26096762,25858597,25846317,25563136,25283271,24493670,24458596,24458550,24124081,22995099,22419608,22253195,20882035,19684605,12673660,8163857,38881369,38613168,38217456,38019730,37554039,37194190,36541891,36495474,36428239,36265687,36123612,35575813,35101235,33452774,33283961,30670449,30504325,30329053,30311384,29924299,28650561,28620009,28371260,28343148,26911351,26446362,25952305,25939664,25884655,25420281,25358541,25331583,25137548,24691193,24458587,24458522,24451042,24102521,23524970,23250860,22606262,21590266,21548061,20543203,17139695,38884729,38230957,35159106,34716204,33526449,28144274,27799978,24739123,23885229,20648242,19026195,16723851,15356469,11759976,39016685,38824261,38741564,38622924,38622060,38385260,38332451,38152053,38132703,38118219,38066851,37981895,37945316,37684264,37644277,37584733,37534527,37453833,37445722,37311434,37187274,37144690,37087305,37014583,36946161,36739480,36594122,36588481,36445482,36271153,36150563,36094370,36053528,36042365,35927969,35922947,35819517,35697791,35665722,35535491,35443935,35377828,35236051,35159287,35061336,34988909,34862352,34626534,34590720,34580726,34525349,34525182,34464969,34407489,34387930,34297046,34032360,34019335,34002029,33965620,33792628,33769390,33762099,33583502,33531590,33416891,33394740,33375775,33337259,33283703,33275756,33275673,33139265,33038984,33011939,32990483,32966606,32933826,32867556,32815881,32815876,32770553,32705414,32697817,32594584,32561839,32460983,32209330,32144894,32036779,32036728,32032248,31980238,31940719,31862911,31807902,31776464,31688455,31657576,31347788,31289199,31244092,31222725,31048357,31014430,30803559,30773984,30761552,30697976,30593830,30508783,30305537,30272300,30143999,30129165,30096712,30026077,30018082,30012129,29908030,29884903,29844011,29764573,29724903,29496305,29437595,29335768,29316027,29279013,29259247,29259179,29129488,29023302,28975680,28801348,28749240,28728859,28620004,28611190,28576879,28555081,28447248,28414089,28244637,28098151,28084675,28072764,27913534,27840422,27783593,27664113,27466182,27449297,27447965,27384852,27345978,27345975,27283082,27158276,27145535,27107091,26983639,26980750,26965285,26935631,26933204,26891149,26854029,26822028,26757980,26720758,26712910,26467218,26457648,26457647,26456833,26440969,26341048,26316488,26286251,26264606,26181421,26082490,25896945,25858548,25742478,25728710,25703294,25691160,25650089,25616283,25564399,25516272,25395418,25261124,25212680,25178484,25163700,25156961,25150294,25147919,25102944,25097206,25062113,25047104,24812670,24766281,24705357,24610751,24590757,24588411,24569456,24469048,24378705,24311457,24086733,24085545,23950000,23918763,23892662,23832011,23756559,23707412,23696637,23620576,23460398,23403250,23400592,23314345,23244495,23221339,23211900,23100280,23092099,23023736,22887833,22887781,22858568,22773753,22773603,22753870,22736231,22589484,22571758,22510777,22480363,22315502,22315187,22278918,22238327,22217493,22195407,22195406,22183880,22155606,21930766,21901340,21848520,21804188,21784522,21750428,21744363,21681782,21406719,21294243,21239819,21063026,20979094,20955399,20882436,20829714,20694012,20670271,20651068,20619386,20514855,20492708,20471511,20432758,20428194,20425383,20408841,20231685,20034338,20029231,20015894,20008299,19901108,19874312,19798502,19785027,19775298,19622105,19571318,19528235,19509418,19379597,19358830,19338047,19047918,19010541,18954903,18948576,18835035,18835028,18799937,18784923,18758896,18640765,18623221,18566538,18555525,18480833,18454468,18422786,18302710,18286234,18172006,18164384,18090932,18024411,18024410,18024405,18000165,17710663,17686059,17414570,17353900,17351342,17332249,17330262,17268534,17222369,17114967,16825992,16781478,16778141,16720837,16682290,16637572,16610578,16518851,16424864,16371368,16344675,16261595,16197716,16124853,16038733,16035388,15988004,15982344,15951301,15928039,15877738,15838389,15834506,15801956,15761018,15755284,15723289,15644411,15604238,15561680,15561678,15539800,15454834,15390271,15385933,15382263,15342990,15240615,15211660,15182334,15087372,15087069,14982869,14755311,14732923,14644997,14623459,14560776,14521811,12717436,12699894,12571467,12531231,12518368,12432214,12368708,12142781,12010819,11972535,11895804,11766339,10979983,10908648,10870310,10706766,10678181,10609788,10609786,10520001,10492067,10342589[uid]

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Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.

Liu Z, Lai J, Song F. Liu Z, et al. Transl Pediatr. 2024 Jul 31;13(7):1161-1168. doi: 10.21037/tp-24-113. Epub 2024 Jul 16. Transl Pediatr. 2024. PMID: 39144424 Free PMC article.

Noonan syndrome-like disorder: Case report and review of the literature.

Mar K, Lam JM. Mar K, et al. Pediatr Dermatol. 2024 Jul 30. doi: 10.1111/pde.15696. Online ahead of print. Pediatr Dermatol. 2024. PMID: 39076033

Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site CBL variant alongside a novel constitutional CSF3R variant.

Mason G, Aghajani R, Dance B, Othman J, Goodwin L, Stevenson W, Mackinlay N. Mason G, et al. EJHaem. 2024 Feb 18;5(2):397-402. doi: 10.1002/jha2.864. eCollection 2024 Apr. EJHaem. 2024. PMID: 38633130 Free PMC article.

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Munoz-Osores E, Piñones M, Barriga F, Wietstruck MA, Pérez-Mateluna G, Mellado C, Aracena M, Parra R, García C, Borzutzky A. Munoz-Osores E, et al. Transpl Immunol. 2024 Apr;83:102013. doi: 10.1016/j.trim.2024.102013. Epub 2024 Feb 22. Transpl Immunol. 2024. PMID: 38395087 Review.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Onore ME, Caiazza M, Farina A, Scarano G, Budillon A, Borrelli RN, Limongelli G, Nigro V, Piluso G. Onore ME, et al. Genes (Basel). 2023 Dec 25;15(1):32. doi: 10.3390/genes15010032. Genes (Basel). 2023. PMID: 38254922 Free PMC article.

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.

Morán-Álvarez P, Gianviti A, Diomedi-Camassei F, Ginevrino M, de Benedetti F, Bracaglia C. Morán-Álvarez P, et al. Pediatr Rheumatol Online J. 2024 Jan 18;22(1):17. doi: 10.1186/s12969-023-00939-z. Pediatr Rheumatol Online J. 2024. PMID: 38238724 Free PMC article. Review.

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.

Markholt S, Andreasen L, Bjerre J, Gregersen PA, Andersen BN. Markholt S, et al. Eur J Med Genet. 2023 Feb;66(2):104695. doi: 10.1016/j.ejmg.2023.104695. Epub 2023 Jan 3. Eur J Med Genet. 2023. PMID: 36608738 Free article.

Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.

Saettini F, Coliva TA, Vendemini F, Galbiati M, Bugarin C, Masetti R, Moratto D, Chiarini M, Guerra F, Iascone M, Badolato R, Cazzaniga G, Niemeyer C, Flotho C, Biondi A. Saettini F, et al. Front Pediatr. 2022 Jul 28;10:935951. doi: 10.3389/fped.2022.935951. eCollection 2022. Front Pediatr. 2022. PMID: 35967575 Free PMC article.

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.

Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S. Papadopoulos G, et al. Eur J Pediatr. 2022 Oct;181(10):3691-3700. doi: 10.1007/s00431-022-04574-w. Epub 2022 Jul 29. Eur J Pediatr. 2022. PMID: 35904599

Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant.

Ortigoza-Escobar JD, Fernández de Sevilla M, Monfort L, Antón J, Iglesias E, Rebollo M, Del-Prado-Sánchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou C, Catalá A. Ortigoza-Escobar JD, et al. J Neuroimmunol. 2022 Aug 15;369:577917. doi: 10.1016/j.jneuroim.2022.577917. Epub 2022 Jun 12. J Neuroimmunol. 2022. PMID: 35717738

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