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Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

Bhanushali, Aparna A

Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient. [electronic resource] - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Mar 2016 - 127-9 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1532-2653

Standard No.: 10.1016/j.jocn.2015.08.040 doi

Subjects--Topical Terms:
Female
Genotype
Humans
Methyl-CpG-Binding Protein 2--genetics
Mutation
Phenotype
Rett Syndrome--genetics

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