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The HYP Consortium. Nat Genet 11: 130\u2013136.","DOI":"10.1038\/ng1095-130"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, et al. (2022) Novel PHEX gene locus-specific database: comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Hum Mutat 43: 143\u2013157.","DOI":"10.1002\/humu.24296"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3 Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434: 400\u2013404.","DOI":"10.1038\/nature03479"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K (2012) Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. J Hum Genet 57: 453\u2013458.","DOI":"10.1038\/jhg.2012.56"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, et al. (2019) Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 121: 212\u2013220.","DOI":"10.1016\/j.bone.2019.01.021"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Rush ET, Johnson B, Aradhya S, Beltran D, Bristow SL, et al. (2022) Molecular diagnoses of X-linked and other genetic hypophosphatemias: results from a sponsored genetic testing program. J Bone Miner Res 37: 202\u2013214.","DOI":"10.1002\/jbmr.4454"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Lin X, Li S, Zhang Z, Yue H (2021) Clinical and genetic characteristics of 153 Chinese patients with X-linked hypophosphatemia. Front Cell Dev Biol 9: 617738.","DOI":"10.3389\/fcell.2021.617738"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Rafaelsen S, Johansson S, R\u00e6der H, Bjerknes R (2016) Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol 174: 125\u2013136.","DOI":"10.1530\/EJE-15-0515"},{"key":"9","doi-asserted-by":"publisher","unstructured":"9 Ishihara Y, Ohata Y, Takeyari S, Kitaoka T, Fujiwara M, et al. (2021) Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling. Bone 153: 116135.","DOI":"10.1016\/j.bone.2021.116135"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Capelli S, Donghi V, Maruca K, Vezzoli G, Corbetta S, et al. (2015) Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone 79: 143\u2013149.","DOI":"10.1016\/j.bone.2015.05.040"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Hattori A, Fukami M (2020) Established and novel mechanisms leading to <i>de novo<\/i> genomic rearrangements in the human germline. Cytogenet Genome Res 160: 167\u2013176.","DOI":"10.1159\/000507837"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, et al. (2017) Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. Clin Endocrinol (Oxf) 87: 103\u2013112.","DOI":"10.1111\/cen.13347"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Orstavik KH, Orstavik RE, Halse J, Knudtzon J (1996) X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets. J Med Genet 33: 700\u2013703.","DOI":"10.1136\/jmg.33.8.700"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, et al. (2009) Discordance for X-linked hypophosphataemic rickets in identical twin girls. Horm Res 71: 237\u2013244.","DOI":"10.1159\/000201113"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Kayser M, Jain P, Bale A, Carpenter TO (2023) A <i>de novo<\/i> deleterious PHEX variant without clinical features of X-linked hypophosphatemia. JCEM Case Rep 1: luad082.","DOI":"10.1210\/jcemcr\/luad082"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, et al. (2021) Targeted long-read sequencing identifies missing disease-causing variation. Am J Hum Genet 108: 1436\u20131449.","DOI":"10.1016\/j.ajhg.2021.06.006"},{"key":"17","unstructured":"17 https:\/\/community.nanoporetech.com\/docs\/plan\/best_practice\/adaptive-sampling\/v\/ads_s1016_v1_revj_12nov2020 accessed on August 9, 2023."},{"key":"18","unstructured":"18 Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229\u20131239."},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Ito N, Fukumoto S, Takeuchi Y, Yasuda T, Hasegawa Y, et al. (2005) Comparison of two assays for fibroblast growth factor (FGF)-23. J Bone Miner Metab 23: 435\u2013440.","DOI":"10.1007\/s00774-005-0625-4"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Zheng B, Wang C, Chen Q, Che R, Sha Y, et al. (2020) Functional characterization of PHEX gene variants in children with X-linked hypophosphatemic rickets shows no evidence of genotype-phenotype correlation. J Bone Miner Res 35: 1718\u20131725.","DOI":"10.1002\/jbmr.4035"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285\u2013298.","DOI":"10.1038\/nrg775"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Soto Barros J, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, et al. (2023) X-linked hypophosphatemia in 4 generations due to an exon 13\u201315 duplication in PHEX, in the absence of the c.*231A&gt;G variant. Bone 172: 116763.","DOI":"10.1016\/j.bone.2023.116763"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, et al. (1997) Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 6: 539\u2013549.","DOI":"10.1093\/hmg\/6.4.539"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, et al. (2009) Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 161: 647\u2013651.","DOI":"10.1530\/EJE-09-0261"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, et al. (2011) Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) 74: 312\u2013318.","DOI":"10.1111\/j.1365-2265.2010.03919.x"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 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.","DOI":"10.11005\/jbm.2017.24.4.257"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Chin YA, Zhao Y, Tay G, Sim W, Chow CY, et al. (2021) Delayed diagnosis, difficult decisions: novel gene deletion causing X-linked hypophosphatemia in a middle-aged man with achondroplastic features and tertiary hyperparathyroidism. Case Rep Endocrinol 2021: 9944552.","DOI":"10.1155\/2021\/9944552"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Cao Y, You Y, Wang Q, Ren X, Li S, et al. (2022) Identification of six novel variants from nine Chinese families with hypophosphatemic rickets. BMC Med Genomics 15: 161.","DOI":"10.1186\/s12920-022-01305-w"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 McInnes B, Rademaker A, Martin R (1998) Donor age and the frequency of disomy for chromosomes 1, 13, 21 and structural abnormalities in human spermatozoa using multicolour fluorescence <i>in-situ<\/i> hybridization. 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