{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T03:09:40Z","timestamp":1740107380979,"version":"3.37.3"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T00:00:00Z","timestamp":1630886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"name":"special fund of guangzhou science technology and innovation commission","award":["202102020133"],"award-info":[{"award-number":["202102020133"]}]},{"name":"guangzhou science and technology program","award":["201804010283"],"award-info":[{"award-number":["201804010283"]}]},{"DOI":"10.13039\/501100001809","name":"national natural science foundation of china","doi-asserted-by":"publisher","award":["81873661"],"award-info":[{"award-number":["81873661"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1007\/s00223-021-00909-1","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T12:02:56Z","timestamp":1630929776000},"page":"266-271","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets"],"prefix":"10.1007","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8974-357X","authenticated-orcid":false,"given":"Yunting","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinjiang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanna","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuili","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4330-5694","authenticated-orcid":false,"given":"Li","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5954-1803","authenticated-orcid":false,"given":"Chunhua","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,9,6]]},"reference":[{"key":"909_CR1","doi-asserted-by":"publisher","first-page":"3399","DOI":"10.1210\/jcem.86.8.7761","volume":"86","author":"IA Holm","year":"2001","unstructured":"Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO (2001) Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3399\u20133889. https:\/\/doi.org\/10.1210\/jcem.86.8.7761","journal-title":"J Clin Endocrinol Metab"},{"key":"909_CR2","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00439-009-0631-z","volume":"125","author":"C Gaucher","year":"2009","unstructured":"Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garab\u00e9dian M, Jehan F (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 125:401\u2013411. https:\/\/doi.org\/10.1007\/s00439-009-0631-z","journal-title":"Hum Genet"},{"key":"909_CR3","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<383::AID-HUMU18>3.0.CO;2-#","volume":"15","author":"H Tyynismaa","year":"2000","unstructured":"Tyynismaa H, Kaitila I, N\u00e4nt\u00f6-Salonen K, Ala-Houhala M, Alitalo T (2000) Identification of fifteen novel PHEX gene mutations in finnish patients with hypophosphatemic rickets. Hum Mutat 15:383\u2013384. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(200004)15:4%3c383::AID-HUMU18%3e3.0.CO;2-#","journal-title":"Hum Mutat"},{"key":"909_CR4","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1007\/s40618-020-01240-6","volume":"43","author":"Y Lin","year":"2020","unstructured":"Lin Y, Xu J, Li X, Sheng H, Su L, Wu M, Cheng J, Huang Y, Mao X, Zhou Z, Zhang W, Li C, Cai Y, Wu D, Lu Z, Yin X, Zeng C, Liu L (2020) Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia. J Endocrinol Invest 43:1577\u20131590. https:\/\/doi.org\/10.1007\/s40618-020-01240-6","journal-title":"J Endocrinol Invest"},{"key":"909_CR5","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng1095-130","volume":"11","author":"The HYP Consortium","year":"1995","unstructured":"The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130\u2013136. https:\/\/doi.org\/10.1038\/ng1095-130","journal-title":"Nat Genet"},{"key":"909_CR6","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.bone.2019.01.021","volume":"121","author":"C Zhang","year":"2019","unstructured":"Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W (2019) Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 121:212\u2013220. https:\/\/doi.org\/10.1016\/j.bone.2019.01.021","journal-title":"Bone"},{"key":"909_CR7","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1210\/jc.2005-1776","volume":"91","author":"K Goji","year":"2006","unstructured":"Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M (2006) Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J Clin Endocrinol Metab 91:365\u2013370. https:\/\/doi.org\/10.1210\/jc.2005-1776","journal-title":"J Clin Endocrinol Metab"},{"key":"909_CR8","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/s00223-009-9260-8","volume":"85","author":"S Clausmeyer","year":"2009","unstructured":"Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F (2009) Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Calcif Tissue Int 85:211\u2013220. https:\/\/doi.org\/10.1007\/s00223-009-9260-8","journal-title":"Calcif Tissue Int"},{"key":"909_CR9","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/jhg.2015.133","volume":"61","author":"C Weng","year":"2016","unstructured":"Weng C, Chen J, Sun L, Zhou ZW, Feng X, Sun JH, Lu LP, Yu P, Qi M (2016) A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. J Hum Genet 61:223\u2013227. https:\/\/doi.org\/10.1038\/jhg.2015.133","journal-title":"J Hum Genet"},{"key":"909_CR10","doi-asserted-by":"publisher","first-page":"229","DOI":"10.6065\/apem.2018.23.4.229","volume":"23","author":"M Yang","year":"2018","unstructured":"Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK (2018) A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets. Ann Pediatr Endocrinol Metab 23:229\u2013234. https:\/\/doi.org\/10.6065\/apem.2018.23.4.229","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"909_CR11","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.endinu.2019.05.009","volume":"67","author":"JJ Broseta","year":"2020","unstructured":"Broseta JJ, L\u00f3pez-Romero LC, Cer\u00f3n JA, Mendiz\u00e1bal S, Hern\u00e1ndez-Jaras J (2020) Mosaicism in 2 cases of X-linked hypophosphatemia. Endocrinol Diabetes Nutr (Engl Ed) 67:70\u201371. https:\/\/doi.org\/10.1016\/j.endinu.2019.05.009","journal-title":"Endocrinol Diabetes Nutr (Engl Ed)"},{"key":"909_CR12","doi-asserted-by":"publisher","unstructured":"Asano S, Sako S, Funasaki Y, Takeshita Y, Niida Y, Takamura T (2021) A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes. Endocr J 2021 Apr 28. https:\/\/doi.org\/10.1507\/endocrj.EJ20-0809. Online ahead of print.","DOI":"10.1507\/endocrj.EJ20-0809"},{"key":"909_CR13","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1530\/EJE-09-0261","volume":"161","author":"T Saito","year":"2009","unstructured":"Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, Fukumoto S, Fujita T (2009) Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 161:647\u2013651. https:\/\/doi.org\/10.1530\/EJE-09-0261","journal-title":"Eur J Endocrinol"},{"key":"909_CR14","doi-asserted-by":"publisher","first-page":"257","DOI":"10.11005\/jbm.2017.24.4.257","volume":"24","author":"AP Vidmar","year":"2017","unstructured":"Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P (2017) X-linked hypophosphatemic rickets, del(2)(q37.1;q37.3) deletion syndrome and mosaic turner syndrome, mos 45, X\/46, X, del(2)(q37.1;q37.3) in a 3-year-old female. J Bone Metab 24:257\u2013261. https:\/\/doi.org\/10.11005\/jbm.2017.24.4.257","journal-title":"J Bone Metab"},{"key":"909_CR15","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1530\/EJE-20-0275","volume":"183","author":"S Thiele","year":"2020","unstructured":"Thiele S, Werner R, Stubbe A, Hiort O, Hoeppner W (2020) Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting. Eur J Endocrinol 183:497\u2013504. https:\/\/doi.org\/10.1530\/EJE-20-0275","journal-title":"Eur J Endocrinol"},{"key":"909_CR16","doi-asserted-by":"publisher","first-page":"K1","DOI":"10.1530\/EJE-19-0472","volume":"182","author":"Y Lin","year":"2020","unstructured":"Lin Y, Cai Y, Xu J, Zeng C, Sheng H, Yu Y, Li X, Liu L (2020) \u201cIsolated\u201d germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets. Eur J Endocrinol 182:K1\u2013K6. https:\/\/doi.org\/10.1530\/EJE-19-0472","journal-title":"Eur J Endocrinol"},{"key":"909_CR17","doi-asserted-by":"publisher","DOI":"10.1136\/bmjdrc-2020-001345","volume":"8","author":"Y Lin","year":"2020","unstructured":"Lin Y, Sheng H, Ting TH, Xu A, Yin X, Cheng J, Mei H, Shao Y, Zeng C, Zhang W, Rao M, Liu L, Li X (2020) Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age. BMJ Open Diabetes Res Care 8:e001345. https:\/\/doi.org\/10.1136\/bmjdrc-2020-001345","journal-title":"BMJ Open Diabetes Res Care"},{"key":"909_CR18","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s00223-007-9067-4","volume":"81","author":"W Xia","year":"2007","unstructured":"Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X (2007) Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. Calcif Tissue Int 81:415\u2013420. https:\/\/doi.org\/10.1007\/s00223-007-9067-4","journal-title":"Calcif Tissue Int"},{"key":"909_CR19","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/eji.201747445","volume":"48","author":"Y Lin","year":"2018","unstructured":"Lin Y, Xu A, Zeng C, Cheng J, Li N, Niu H, Liu L, Li X (2018) Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome. Eur J Immunol 48:885\u2013887. https:\/\/doi.org\/10.1002\/eji.201747445","journal-title":"Eur J Immunol"},{"key":"909_CR20","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15563","volume":"47","author":"Y Lin","year":"2020","unstructured":"Lin Y, Zeng C, Chen X, Li T, Liu H, Liu H, Hu H, Liu L (2020) Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism. J Dermatol 47:e395. https:\/\/doi.org\/10.1111\/1346-8138.15563","journal-title":"J Dermatol"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-021-00909-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-021-00909-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-021-00909-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T16:03:37Z","timestamp":1642953817000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-021-00909-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,6]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["909"],"URL":"https:\/\/doi.org\/10.1007\/s00223-021-00909-1","relation":{},"ISSN":["0171-967X","1432-0827"],"issn-type":[{"type":"print","value":"0171-967X"},{"type":"electronic","value":"1432-0827"}],"subject":[],"published":{"date-parts":[[2021,9,6]]},"assertion":[{"value":"27 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 September 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Yunting Lin, Wen Zhang, Xinjiang Huang, Ling Su, Yanna Cai, Cuili Liang, Min Rao, Li Liu and Chunhua Zeng declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Institutional Review Board of Guangzhou Women and Children\u2019s Medical Center (Guangzhou, China) (No. 2015\u2013112; 2015\u201382).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consent was obtained from the subjects or the guardians.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}}]}}