In this case report we will describe a rare association between anhyrotic ectodermal dysplasia (AED) and immunodeficiency and autoimmunity [in our case: Idiopathic Thrombocytopenic Purpura (ITP) and Crohn disease].
Farzaneh Motamed +2 more
doaj
Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis [PDF]
Alexandra J. Childs +2 more
openalex +1 more source
Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 2 : retrievers and other breed types [PDF]
A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler ...
Beckers, Evy +3 more
core
Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II) [PDF]
J. Timothy Wright +6 more
openalex +1 more source
Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal +2 more
doaj +1 more source
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. [PDF]
Angus Clarke +3 more
openalex +1 more source
Congenital Hypotrichosis in a female Rottweiler [PDF]
Ihrke, P. J. +2 more
core +1 more source
An update on the aetiology of orofacial clefts [PDF]
Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft ...
Hägg, U, Wong, FK
core
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. [PDF]
Betsy Ferguson +5 more
openalex +1 more source

