Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome

• Principais autores: Gebril OH (Autor), Cheong SS (Autor), Hardcastle AJ (Autor), Abdelraouf ER (Autor), Eid SR (Autor), Elsaied M (Autor)
• Formato: Livro
• Publicado em: Journal of Neurology, Neurological Science and Disorders - Peertechz Publications, 2017-07-03.
• Assuntos: Case Report
• Acesso em linha: Connect to this object online.

<p>Megalocornea is a defining feature of megalocornea-mental retardation (MMR) syndromealso called Neuhäuser syndrome, a rare condition of unknown etiology.</p><p>Here we describe a family with two sons, who were diagnosed with megalocornea, mild mental subnormality and microcephal...