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hemimegalencephaly/ataxia

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Megalencephaly means an increased size or weight of a generally well-formed brain. It is a feature of a heterogeneous group of mostly familial human disorders with prenatal or early childhood onset. Seizures, motor deficits, mental retardation or milder cognitive impairment are sometimes present.

Incontinentia pigmenti and hypomelanosis of Ito.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential component of the nuclear factor-kappa B (NF-κB)
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