| 1 | CLCN5, HYP2 |
| Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. | |
| Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y. | |
| Clin Endocrinol (Oxf). Jul;87(1):103-112. doi: 10.1111/cen.13347. Epub 2017 May 11 2017 | |
| 2 | CLCN5, HYP2 |
| A second family with XLRH displays the mutation S244L in the CLCN5 gene. | |
| Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A. | |
| Hum Genet 99(6):781-4. 1997 | |
| 3 | HYP2 |
| A new form of X-linked hypophosphatemic rickets with hypercalciuria (HPDR II) maps in the XP11 region. | |
| Devoto M, et al. | |
| Am J Hum Genet 53 : 993. 1993 | |
| 4 | HYP2, NPHL2 |
| Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. | |
| Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G. | |
| Eur J Hum Genet 1(4):269-79. 1993 | |