The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

1997 ◽  
Vol 71 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Uppala Radhakrishna ◽  
Jean-Louis Blouin ◽  
Hamid Mehenni ◽  
Timir Y. Mehta ◽  
Frenny J. Sheth ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Pericentromeric Region ◽  
Indian Family

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

2001 ◽  
Vol 49 (1) ◽  
pp. 117-121 ◽  
Author(s):  
Hiroto Fujigasaki ◽  
Ishwar C. Verma ◽  
Agn�s Camuzat ◽  
Russell L. Margolis ◽  
Cecilia Zander ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Indian Family

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 A rare case report of progressive symmetric erythrokeratoderma in five generations of an Indian family

2018 ◽  
Vol 4 (3) ◽  
pp. 444
Author(s):  
Anil Kumar Gupta ◽  
Kanishk Utkarsh Kaushik ◽  
Sushantika . ◽  
Shivangi Sachan
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Indian Family ◽  
Rare Case Report ◽  
Successive Generations ◽  
Rare Group

<p>Erythrokeratoderma is a rare group of disorders of autosomal dominant inheritance characterised by localised erythema and hyperkeratosis. Within a broad spectrum of phenotypes atleast two are delineated: a) Erythrokeratoderma variabilis and b) Progressive symmetric erythrokeratoderma. Here we are reporting a case of progressive symmetric erythrokeratoderma in an Indian family where five successive generations were involved.</p>

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