Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome
Autor: | Gebril Oh, Cheong Ss, Abdelraouf Er, Elsaied M, Eid, Hardcastle Aj |
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Rok vydání: | 2017 |
Předmět: | |
Zdroj: | Journal of Neurology, Neurological Science and Disorders. 3:028-032 |
ISSN: | 2641-2950 |
DOI: | 10.17352/jnnsd.000017 |
Popis: | Megalocornea is a defi ning feature of megalocornea-mental retardation (MMR) syndromealso calledNeuhauser syndrome, a rare condition of unknown etiology. |
Databáze: | OpenAIRE |
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