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Acrocephalopolydactylous Dysplasia

Known as: ELEJALDE SYNDROME 
National Institutes of Health

Related topics

Related topics

12 relations
AcrocephalyAutosomal recessive inheritanceCystic renal dysplasiaElejalde Disease

Broader (2)

Growth DisordersMultiple congenital anomalies

Papers overview

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2017
2017
Silvery gray hair syndromes: An insight into diagnosis
Context: Silvery gray hair syndromes consist of three conditions, Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and… 
2016
2016
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde… 
2015
2015
Elejalde syndrome (ES).
Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome… 
2015
2015
Elejalde Syndrome: The Silvery Hair Syndrome
Elejalde Syndrome (ES) is also known as neuro-ectodermal melanolysosomal disease [1]. It forms a spectrum of the silvery hair… 
2014
2014
Cuestionario Pop, Karra Elejalde
Todos lo recordamos por 'Airbag', pero el Goya se lo debe a Iciar Bollain ('Tambien la lluvia'). En 'Ocho apellidos vascos' Karra… 
2013
2013
Conflicting identities in Spain's peripheries: centralist Spanish nationalism in contemporary cultural production of Catalonia and the Basque country
2007
2007
Estatinas en prevención primaria de la enfermedad cardiovascular. ¿Uso basado en la evidencia o evidencia
Review
2003
Review
2003
Syndromic albinism: a review of genetics and phenotypes.
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS… 
2002
2002
Scientific Inference And The Pursuit Of Fame: A Contractarian Approach*
Methodological norms are seen as rules defining a competitive game, and it is argued that rational recognition‐seeking scientists… 
Review
1994
Review
1994
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia).
We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical… 
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