Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia-Reference-Cited by-同舟云学术

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

Published:2014-05-30 Issue:4 Volume:87 Page:338-342
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Guazzarotti L.¹,Tadini G.²,Mancini G.E.³,Giglio S.⁴⁵,Willoughby C.E.⁶,Callea M.⁷,Sani I.⁴,Nannini P.¹,Mameli C.¹,Tenconi A.A.¹,Mauri S.¹,Bottero A.⁸,Caimi A.⁹,Morelli M.¹,Zuccotti G.V.¹

Affiliation:

1. Department of Pediatrics; University of Milan, Luigi Sacco Hospital; Milan Italy

2. Centre for Inherited Cutaneous Diseases, Pediatric Dermatology Unit, Department of Anesthesiologic and Dermatologic Sciences; IRCCS Ca' Granda Policlinico Hospital; Milan Italy

3. Department of Maxillo-Facial Surgery Orthodontic Unit; IRCCS Galeazzi; Milan Italy

4. Medical Genetics Unit; Meyer Children's University Hospital; Florence Italy

5. Medical Genetics Section, Department of Clinical Pathophysiology; University of Florence; Florence Italy

6. Department of Eye and Vision Science, Institute of Ageing and Chronic Disease; University of Liverpool; Liverpool UK

7. Institute for Maternal and Child Health; IRCCS “Burlo Garofolo”; Trieste Italy

8. Department of Otorhinolaryngology; University of Milan, Luigi Sacco Hospital; Milan Italy

9. Department of Ophthalmology; University of Milan, Luigi Sacco Hospital; Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

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3. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010;Nguyen-Nielsen;Eur J Med Genet,2013

4. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy;Blüschke;Early Hum Dev,2010

5. Psychological aspects of hypohidrotic ectodermal dysplasia;Tanner;Birth Defects Orig Artic Ser,1988

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