Multidisciplinary Approach to Ectodermal Dysplasia
portes grátis
Multidisciplinary Approach to Ectodermal Dysplasia
Wright, John Timothy; Tadini, Gianluca; Schneider, Holm; Hadj-Rabia, Smail
Springer International Publishing AG
02/2025
218
Dura
9783031757891
Pré-lançamento - envio 15 a 20 dias após a sua edição
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Preface.- 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.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
inherited skin disorders;teeth dysplasia;Tooth Agenesis;molecular diagnosis;gene therapy;embryonic development;cleft lip/palate;pediatric diseases;hair dysplasia;sweat gland dysplasia;genetic mutation;nail dysplasia;hypohidrotic dysplasia;anhidrotic dysplasia;Ectrodactyly-ED-clefting syndrome;Rapp-Hodgkin hypohidrotic ED;Ankyloblepharon;Hay-Wells syndrome;rare diseases;genetic disorder
Preface.- 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.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
inherited skin disorders;teeth dysplasia;Tooth Agenesis;molecular diagnosis;gene therapy;embryonic development;cleft lip/palate;pediatric diseases;hair dysplasia;sweat gland dysplasia;genetic mutation;nail dysplasia;hypohidrotic dysplasia;anhidrotic dysplasia;Ectrodactyly-ED-clefting syndrome;Rapp-Hodgkin hypohidrotic ED;Ankyloblepharon;Hay-Wells syndrome;rare diseases;genetic disorder
