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A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Alt...

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Detalles Bibliográficos
Autores principales: Özcan, Deren, Derbent, Murat, Seçkin, Deniz, Bikmaz, Yunus Emre, Ağildere, Muhteşem, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Gürakan, Berkan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870219/
https://www.ncbi.nlm.nih.gov/pubmed/24371398
http://dx.doi.org/10.5021/ad.2013.25.4.483