An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

BACKGROUND: There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ear...

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Detalles Bibliográficos
Autores principales: Selenti, Nikoletta, Tzetis, Maria, Braoudaki, Maria, Gianikou, Krinio, Kitsiou-Tzeli, Sofia, Fryssira, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534011/
https://www.ncbi.nlm.nih.gov/pubmed/26269715
http://dx.doi.org/10.1186/s13039-015-0169-9

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