LEADER 00821nam0-2200277---450- 001 990010076210403321 005 20160608085654.0 035 $a001007621 035 $aFED01001007621 035 $a(Aleph)001007621FED01 035 $a001007621 100 $a20160525d1947----km-y0itay50------ba 101 0 $afre 102 $aFR 105 $aa-------001yy 200 1 $aPrecis de géologie$eà l'usage des candidats a la licence des sciences, au S.P.C.N. et aux grandes ecoles$fLeon Moret 210 $aParis$cMasson et Cie.$d1947 215 $aVIII, 637 p., 1 c. di tav.$cill.$d24 cm 700 1$aMoret,$bLeon$0333714 801 0$aIT$bUNINA$gRICA$2UNIMARC 901 $aBK 912 $a990010076210403321 952 $aN 9/26$b0029$fDINGE 959 $aDINGE 996 $aPrécis de Géologie$9675853 997 $aUNINA LEADER 04751nam 22007095 450 001 9910951901203321 005 20250116115234.0 010 $a9783031757907 010 $a3031757904 024 7 $a10.1007/978-3-031-75790-7 035 $a(MiAaPQ)EBC31881354 035 $a(Au-PeEL)EBL31881354 035 $a(CKB)37233315100041 035 $a(DE-He213)978-3-031-75790-7 035 $a(OCoLC)1492965647 035 $a(EXLCZ)9937233315100041 100 $a20250116d2024 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aMultidisciplinary Approach to Ectodermal Dysplasia /$fedited by Gianluca Tadini, John Timothy Wright, Smaïl Hadj-Rabia, Holm Schneider 205 $a1st ed. 2024. 210 1$aCham :$cSpringer Nature Switzerland :$cImprint: Springer,$d2024. 215 $a1 online resource (294 pages) 311 08$a9783031757891 311 08$a3031757890 327 $aPreface -- 1. Epidemiology of Ectodermal Dysplasias -- 2. What is and isn?t an ectodermal dysplasia? -- 3. X-linked hypohidrotic ectodermal dysplasia: the pathogenic role of the EDA gene -- 4. X Linked-Hypohidrotic Ectodermal Dysplasia - Clinical Features -- 5. Incontinentia pigmenti -- 6. Genetic basis and molecular diagnosis of p63-associated ectodermal dysplasia -- 7. Focal Dermal Hypoplasia (FDH) and WNT10A-related ED -- 8. Nectinopathies: ectodermal dysplasia syndromes caused by mutations in PVRL1/4 genes encoding cell adhesion molecules nectins-1/4 -- 9. Other syndromes with prominent ectodermal dysplasia signs -- 10. Ectodermal Dysplasias: Orofacial Manifestations and Management -- 11. Oral and dental phenotype in ectodermal dysplasias -- 12. Ocular manifestations in hypohidrotic ectodermal dysplasia -- 13. Othorynolaryngologic manifestations in hypohidrotic ectodermal dysplasia -- 14. Broad phenotypic spectrum of Ectodermal Dysplasias in childhood and adolescence -- 15. ED Practical Management -- 16. Molecular therapies -- 17. Patient Advocacy Organizations: One Story of Success. 330 $aEctodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents' and patients' associations. Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists. 606 $aDermatology 606 $aPediatrics 606 $aMedical genetics 606 $aInternal medicine 606 $aFamily medicine 606 $aDermatology 606 $aPediatrics 606 $aMedical Genetics 606 $aInternal Medicine 606 $aGeneral Practice and Family Medicine 615 0$aDermatology. 615 0$aPediatrics. 615 0$aMedical genetics. 615 0$aInternal medicine. 615 0$aFamily medicine. 615 14$aDermatology. 615 24$aPediatrics. 615 24$aMedical Genetics. 615 24$aInternal Medicine. 615 24$aGeneral Practice and Family Medicine. 676 $a616.5 700 $aTadini$b Gianluca$01800822 701 $aWright$b John Timothy$01800823 701 $aHadj-Rabia$b Smaïl$01800824 701 $aSchneider$b Holm$01800825 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910951901203321 996 $aMultidisciplinary Approach to Ectodermal Dysplasia$94345773 997 $aUNINA