Family with autosomal dominant hidrotic ectodermal dysplasia: A previously unrecognised syndrome?

1996 ◽  
Vol 63 (4) ◽  
pp. 549-553 ◽  
Author(s):  
A. L. Christianson ◽  
S. Fourie
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia

New, autosomal dominant form of ectodermal dysplasia

1983 ◽  
Vol 14 (2) ◽  
pp. 381-384 ◽  
Author(s):  
Gordon A. Tuffli ◽  
Renata Laxova ◽  
John M. Opitz
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Dominant Form ◽  
Autosomal Dominant Form

Dental implications of tooth-nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management.

2005 ◽  
Vol 28 (2) ◽  
pp. 107-112 ◽  
Author(s):  
G. Wicomb ◽  
L. Stephen ◽  
P. Beighton
Keyword(s):  
Genetic Counseling ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Male Infant ◽  
Pedigree Data ◽  
Affected Child ◽  
Dental Management ◽  
Nail Dysplasia

Tooth-Nail dysplasia is a rare genetic disorder, which is classified as an ectodermal dysplasia. Diagnostic differentiation from other conditions in this category is necessary for effective dental management and genetic counseling. The oro-dental and clinical manifestations of Tooth-Nail dysplasia in an affected male infant and his father are documented. Other family members have the condition and pedigree data are in keeping with autosomal dominant inheritance.A comprehensive approach to the dental management of an affected child is proposed.

scholarly journals Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

2018 ◽  
Vol 141 (3) ◽  
pp. 1060-1073.e3 ◽  
Author(s):  
Daniel Petersheim ◽  
Michel J. Massaad ◽  
Saetbyul Lee ◽  
Alessia Scarselli ◽  
Caterina Cancrini ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Anhidrotic Ectodermal Dysplasia

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

2016 ◽  
Vol 31 (1) ◽  
pp. e17-e20 ◽  
Author(s):  
A.K. Chaudhary ◽  
R. Mohapatra ◽  
H.A. Nagarajaram ◽  
P. Ranganath ◽  
A. Dalal ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
The Novel ◽  
Hypohidrotic Ectodermal Dysplasia
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