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Acrocephalopolydactylous Dysplasia
Known as:
ELEJALDE SYNDROME
National Institutes of Health
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Related topics
Related topics
12 relations
Acrocephaly
Autosomal recessive inheritance
Cystic renal dysplasia
Elejalde Disease
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Broader (2)
Growth Disorders
Multiple congenital anomalies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Silvery gray hair syndromes: An insight into diagnosis
L. Hemalata
,
R. Pradeep
,
Supriya Siddavatam
,
A. Benakappa
2017
Corpus ID: 55095965
Context: Silvery gray hair syndromes consist of three conditions, Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and…
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2016
2016
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
J. Galve
,
A. Martín-Santiago
,
+5 authors
J. Ferrando
Cutis
2016
Corpus ID: 4236724
Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde…
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2015
2015
Elejalde syndrome (ES).
Siavash Mohammadzadeh Shanehsaz
,
A. Rezazadeh
,
A. Dandashli
Dermatology online journal
2015
Corpus ID: 29174020
Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome…
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2015
2015
Elejalde Syndrome: The Silvery Hair Syndrome
Fehmida Najmuddin
,
R. Rai
,
K. Lahiri
,
Priyadarshini Cholera
2015
Corpus ID: 5898328
Elejalde Syndrome (ES) is also known as neuro-ectodermal melanolysosomal disease [1]. It forms a spectrum of the silvery hair…
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2014
2014
Cuestionario Pop, Karra Elejalde
Andrea G. Bermejo
,
Karra Elejalde
2014
Corpus ID: 190086764
Todos lo recordamos por 'Airbag', pero el Goya se lo debe a Iciar Bollain ('Tambien la lluvia'). En 'Ocho apellidos vascos' Karra…
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2013
2013
Conflicting identities in Spain's peripheries: centralist Spanish nationalism in contemporary cultural production of Catalonia and the Basque country
Stephanie A. Mueller
2013
Corpus ID: 193088290
2007
2007
Estatinas en prevención primaria de la enfermedad cardiovascular. ¿Uso basado en la evidencia o evidencia
A. Andrés
,
Farmaceuticas. Sns-O
2007
Corpus ID: 69047631
Review
2003
Review
2003
Syndromic albinism: a review of genetics and phenotypes.
N. Scheinfeld
Dermatology online journal
2003
Corpus ID: 13600808
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS…
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2002
2002
Scientific Inference And The Pursuit Of Fame: A Contractarian Approach*
J. Z. Bonilla
2002
Corpus ID: 46656000
Methodological norms are seen as rules defining a competitive game, and it is argued that rational recognition‐seeking scientists…
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Review
1994
Review
1994
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia).
N. Nevin
,
B. Herron
,
M. Armstrong
Clinical dysmorphology
1994
Corpus ID: 45205722
We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical…
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