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RETINAL DYSTROPHY GENE ATLAS

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9783030132347 ::  RETINAL DYSTROPHY GENE ATLAS
ISBN:

9783030132347

EditorialSPRINGER NATURE
Edició:
Idioma:INGLES
P.V.P.: 179,99 € + 4% IVA = 187,19 €
Dto 5% Estalvies 9,36 €
Import final iva incl. 177,83 €
Entrega en 15 dies
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CLASSICALLY, PHOTO ATLASES OF RETINAL DYSTROPHIES&NBSP;HAVE BEEN DIVIDED INTO SECTIONS THAT&NBSP;DESCRIBE AND DEPICT A PARTICULAR RETINAL FINDING&NBSP;OR DISEASE, AFTER WHICH A DIFFERENTIAL DIAGNOSIS&NBSP;OF POTENTIAL DISEASES OR MUTATED GENES&NBSP;IS PROVIDED. HOWEVER, GIVEN THE RAPID&NBSP;IMPROVEMENT IN MOLECULAR DIAGNOSTICS,&NBSP;AND THE EXPONENTIAL&NBSP;INCREASE IN OUR UNDERSTANDING OF THE PHENOTYPES&NBSP;CAUSED BY EACH MUTATED GENE, THE PARADIGM&NBSP;HAS CHANGED. PHYSICIANS ARE NOW&NBSP;MORE INTERESTED IN THE VARIABLE EXPRESSIVITY ASSOCIATED WITH MUTATIONS IN EACH INDIVIDUAL&NBSP;GENE. THEREFORE,&NBSP;<I>RETINAL DYSTROPHY GENE&NBSP;</I><I>ATLAS&NBSP;</I>CATALOGS THE DIFFERENT PHENOTYPES THAT&NBSP;HAVE BEEN REPORTED WITH EACH MUTATED GENE. EACH&NBSP;SECTION DESCRIBES A GENE AND ITS KNOWN&NBSP;CLINICAL PHENOTYPES AND FEATURES OF DISEASE,&NBSP;ALONG WITH RETINAL PHOTOS OF AFFECTED PATIENTS. WRITTEN BY PROMINENT RETINAL&NBSP;DYSTROPHY SPECIALISTS FROM THE LARGEST&NBSP;DYSTROPHY CENTERS WORLDWIDE,&NBSP;<I>RETINAL DYSTROPHY&NBSP;</I><I>GENE ATLAS&NBSP;</I>CONTAINS MORE THAN 80&NBSP;CHAPTERS, EACH OF WHICH DESCRIBES THE CLINICAL&NBSP;AND PHOTOGRAPHIC MANIFESTATIONS OF A SPECIFIC&NBSP;GENE. THE CHAPTERS INCLUDE&NBSP;STUNNING CLINICAL COLOR PHOTOGRAPHS OF THE&NBSP;RETINA, AUTOFLUORESCENCE IMAGING, ELECTROPHYSIOLOGIC&NBSP;FINDINGS, AND CROSS-SECTIONAL&NBSP;IMAGING.&NBSP;<I>RETINAL DYSTROPHY GENE ATLAS&NBSP;</I>SERVES AS A RESOURCE TO AID GENETIC DIAGNOSIS&NBSP;IN PATIENTS WITH RETINAL&NBSP;DYSTROPHIES.<DIV><BR></DIV>

PART I. AUTOSOMAL DOMINANT INHERITANCE.- 1. BEST1.- 2. CRX.- 3. CTRP5.- 4. EFEMP1.- 5. ELOVL4.- 6. FSCN2.- 7. GNAT1.- 8. GUCA1A.- 9. GUCA1B.- 10. GUCY2D.- 11. IMPDH1 (RP10).- 12. JAG1.- 13. KLHL7.- 14. PROM1.- 15. PRPF3 (RP18).- 16. PRPF31.- 17. PRPF8 (RP18).- 18. PRPH2 (RDS).- 19. RBP3.- 20. RGR.- 21. RHO.- 22. RLPB1.- 23. RP1.- 24. RIMS1.- 25. SEMA4A.- 26. SNRNP200.- 27. TIMP3.- 28. TOPORS.- 29. TTC8.- 30. VCAN.- 31. WFS1.- PART II. AUTOSOMAL RECESSIVE INHERITANCE.- 32. ABCA4.- 33. AIPL1.- 34. ALMS1.- 35. ARL6.- 36. BBS1.- 37. BBS10.- 38. BBS12.- 39. BBS2.- 40. BBS4.- 41. BBS5.- 42. BBS7.- 43. BBS9.- 44. C2ORF71.- 45. C8ORF37.- 46. CDH23.- 47. CEP290.- 48. CERKL.- 49. CLN3.- 50. CLRN1.- 51. CNGA1.- 52. CNGA3.- 53. CNGB1.- 54. CNGB3.- 55. CRB1.- 56. CYP4V2.- 57. DFNB31.- 58. DHDDS.- 59. EYS.- 60. FAM161A.- 61. GNAT2.- 62. GPR98.- 63. IDH3B.- 64. IMPG1.- 65. IQCB1.- 66. KCNV2.- 67. KCNJ13.- 68. LCA5.- 69. LRAT.- 70. MAK.- 71. MERTK.- 72. MYO7A.- 73. NMNAT1.- 74. NR2E3.- 75. NRL.- 76. OAT.- 77. PDE6A.- 78. PDE6B.- 79. PDE6C.- 80. PDE6G.- 81. PDE6H.- 82. PEX7.- 83. PHYH.- 84. PRCD.- 85. RD3.- 86. RDH5.- 87. RDH12.- 88. RPE65.- 89. RPGRIP1.- 90. SAG.- 91. SPATA7.- 92. TULP1.- 93. USH1C.- 94. USH1G.- 95. USH2A.- 96. ZNF513.- PART III. X-LINKED INHERITANCE.- 97. CACNA1F.- 98. CHM.- 99. NYX.- 100. OPN1LW.- 101. RP2.- 102. RPGR.- 103. RS1.

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